Musculoskeletal Diseases and Related Terms

Many years ago, the science of musculoskeletal (MS) disorders was based on a specific affected anatomic part, tissue, or gross appearance of the individual. Today, modern medicine has supplemented the descriptive with biochemical or genetic terminology. Over the past decade, the understanding of MS diseases has undergone dramatic changes as reflected in this ninth edition. We have retained our previous descriptive terminology, but where applicable, have inserted the biologic mechanism of the disease.

Many MS tumors are associated with changes in chromosome architecture, making accurate diagnoses more possible. Also, microchip tests allow for detection of thousands of single nucleotide polymorphisms (SNPS), which may identify some tumors. SNPS have been associated with numerous musculoskeletal diseases and, depending on location, can have mild to lethal effects. To further our understanding of diseases, refer to Chapter 5 , “Laboratory Evaluations.”

The musculoskeletal system takes on much wear and tear over a lifetime, reacting with changes in integrity, shape, and function. Knowledge of the chemistry and biomechanics of these changes has produced many new terms. The varied responses to repetitive force, infection, and inflammation have created many new terms incorporating joints that become arthritic; bursae that are inflamed; muscles, ligaments, and tendons that are strained, stretched, weakened, or torn; muscles that spasm or atrophy; cartilage that may degenerate; disks that become compressed and rigid; and vascular and metabolic changes that may affect both bone and soft tissue. These effects may be temporary or permanent.

The terms disease and syndrome are sometimes used interchangeably, but to be precise, they have different meanings.

A disease is a specific result of a pathologic condition that presents as a group of symptoms associated with physical or psychologic changes. A disease may be classified acute or chronic, congenital or acquired, focal or systemic, malignant or benign, and contagious or noninfectious. Diseases, also called disorders , may also be characterized as hereditary, inflammatory, metabolic, degenerative, or idiopathic.

A syndrome is a group of symptoms that occur together and are associated with any morbid condition that constitutes the scenario for a specific disease.

Many diseases of the musculoskeletal system overlap into other specialties, such as neurology, neurosurgery, and vascular surgery, and the patient’s symptoms often present as an orthopaedic problem. Therefore, terminology of other specialties is included as it relates to orthopaedics.

Both soft tissue and skeletal disorders can be associated with referred pain, which means that the pain is felt at a site other than its origin. Pain is a perception and, as with all perceptions, illusions are possible. For example, pain can originate at the lumbar region but be felt at some point in the lower limb. Referred pain can also occur with direct pressure on a spinal nerve root in the back (a form of sciatica). In most cases of a back disorder with pain perceived to be in the lower limb, actual pressure is not on a spinal nerve root. Pain in the distribution of the muscles supplied by a specific spinal nerve is called sclerotomal pain. Pain in the sensory distribution of a spinal nerve is called dermatomal pain. The distinction is important in that a dermatomic distribution of pain tends to be more indicative of actual nerve root irritation.

The goal in the treatment of musculoskeletal diseases and conditions is to help the patient become functional and productive as quickly as possible through a conservative approach, surgery, or other measures. The musculoskeletal diseases are defined here by tissue type and anatomic location.

Bone Diseases

Osteo -, the Greek root for “bone,” can be used in various combinations that include more than one root, for example, osteochondral (bone and cartilage), or in terms in which osteo – is preceded by other terms, for example, polyostotic fibrous dysplasia. The os terms relate to small bones (ossicles), especially those in the foot, and are named in Chapter 11 .

Bone disease types are grouped together for purposes of identifying similar or related processes by anatomic or eponymic terms. However, eponyms that are used more often than the common (Greek or Latin) terms are listed separately. The bone diseases are divided as follows: osteo – root diseases, infectious bone diseases, tumors of bone, miscellaneous Latin and English terms, and eponymic bone diseases.

Osteo- Root Diseases

  • hyperosteoidosis: excess osteoid tissue caused by defective mineralization (osteomalacia) and to normal but delayed mineralization; also called hyperparathyroidism, hyperthyroidism, Paget d.

  • ostealgia: pain within bone.

  • osteitis: nonspecific term indicating inflammation of bone with enlargement, tenderness, dull aching; many varieties.

  • osteitis condensans: idiopathic increase in bone density, can be seen in clavicle, ilium, pubis. Ilium form also called piriform sclerosis ilium.

  • osteitis deformans: disease of unknown origin resulting in bowing of long bones and deformation of flat bones; also called Paget d.

  • osteitis fibrosa cystica: bone disease caused by hyperfunction of parathyroid gland; also called osteoplastica.

  • osteitis pubis: increased bone density seen at symphysis pubis; may be associated with pain or increased physical activity.

  • ostemia: abnormal congestion of blood in bone.

  • ostempyesis: suppuration (pus) within a bone.

  • osteoaneurysm: aneurysm in bone.

  • osteoarthritis: Osteoarthritic diseases (OA) are a result of both mechanical and biologic events that destabilize the normal coupling of degradation and synthesis of articular cartilage chondrocytes and extracellular matrix, and subchondral bone. Although they may be initiated by multiple factors, including genetic, developmental, metabolic, and traumatic, OA diseases involve all of the tissues of the diarthrodial joint. Ultimately, OA diseases are manifested by morphologic, biochemical, molecular, and biomechanical changes of both cells and matrix, which lead to a softening, fibrillation, ulceration, loss of articular cartilage, sclerosis, and eburnation of subchondral bone osteophytes and subchondral cysts. When clinically evident, OA diseases are characterized by joint pain, tenderness, limitation of movement, crepitus, occasional effusion, and variable degrees of inflammation without systemic effects.

  • osteoarthropathy: a condition of increased bone formation at the joints; sometimes used to refer to osteoarthritis. Variations of osteoarthropathy are hypertrophic, hypertrophic pulmonary, pulmonary trophic, and secondary hypertrophic.

  • osteoarthrosis: same as the term arthrosis; a heterogeneous group of conditions that lead to joint symptoms and signs associated with defective integrity of articular cartilage, in addition to related changes to the underlying bone at the joint margins ( Fig. 2-1 ).

    Fig. 2-1Surface of tibia following excision for total knee replacement. Joint surfaces are rough with loss of cartilage and formation of new bone and cartilage at margin (osteophytes). (Courtesy Orthopaedic Research Laboratory, Good Samaritan Medical Center, West Palm Beach, FL.)

  • osteoarticular: pertaining to or affecting bones and joints.

  • osteochondritis: inflammation of bone. Formerly called osteochondrosis. Osteochondritis applies to a number of conditions in which the pathologic findings and cause may vary. In children, the disease affects the ossification centers at the pressure epiphysis (joints) or traction epiphysis (e.g., the patellar tendon to the tibia or the Achilles tendon attachment to the heel). In a pressure epiphysis, an area of avascular necrosis or similar process can occur. In the absence of a clear etiologic relationship or consistent pathologic findings, the osteochondritis diseases (as specified by areas affected) can be separated into traction and pressure epiphyses as follows:

    Pressure Epiphyses and Traction Apophyses

    Blount d.: epiphyseal plate of tibia with deformity in metaphysis

    Avascular Necrosis Types

    Brailsford d.: radial head

    Burns d.: humeral trochlea

    Freiberg d.: second metatarsal head

    Haas d.: head of humerus

    Kienböck d.: lunate

    Köhler d.: midpatella

    Köhler d.: tarsal navicular

    Konig d.: femoral condyle

    Legg-Calvé-Perthes d.: femoral head

    Mauclair d.: metacarpal heads

    Panner d.: capitellum

    Scheuermann d.: epiphysitis of vertebral body

    Thiemann d.: proximal phalanx

  • osteochondrodesmodysplasia: a mucopolysaccharide disorder associated with multiple deformities of bone, joints, and tendons; also called Rotter-Erb syndrome.

  • osteochondrodystrophy: dwarfing disease mainly affecting spine and hips with little or no mental disturbance; also called Morquio syndrome.

  • osteochondrofibroma: tumor containing elements of osteoma, chondroma, and fibroma.

  • osteochondrolysis: osteochondritis dissecans.

  • osteochondromatosis: Transformation of synovial villi into bone and cartilage masses, causing loose bodies in the joint. This condition occurs in joints affected by trauma or other degenerative diseases. A condition specifically called synovial osteochondromatosis and Henderson-Jones chondromatosis.

  • osteochondropathy: condition affecting bone and cartilage; marked by abnormal enchondral ossification.

  • osteochondrosis: term being replaced by osteochondritis; condition in children that affects the epiphyseal and apophyseal regions where increased stress occurs.

  • osteochondrosis dissecans: formation of a separate center of bone and cartilage on an epiphyseal surface. The osteochondral fragment may remain in place, be absorbed and replaced slowly, or break loose and become a loose body. Multiple etiologic factors probably exist. This was originally believed to be an inflammatory lesion, but there is no clear evidence for this; hence the change of the term from osteochondritis to osteochondrosis. Another probable etiologic factor is a demarcation of an area of avascular necrosis; also called osteochondritis dissecans.

  • osteoclasia: breaking down and absorption of bone tissue.

  • osteodiastasis: Separation of two bones, typically in the skull.

  • osteodynia: pain in bones.

  • osteodystrophy: defective bone formation.

  • osteofibrochondrosarcoma: malignant tumor containing bone and fibrous and cartilaginous tissue.

  • osteofibroma: tumor containing both osseous and fibrous elements.

  • osteofibromatosis: formation of multiple osteofibromas.

  • osteofibrous dysplasia: lesion that has a histologic appearance similar to fibrous dysplasia, except that the bone is being formed by osteocytes rather than by fibrocyte-like cells; also called campanacci lesion, ossifying fibroma of long bones.

  • osteogenesis imperfecta: condition characterized by low bone mass, increased bone fragility, bone deformity, growth deficiency and joint hypermobility; inherited and usually a result of abnormal type I collagen (COL1A1 or COL1A2). Approximately 10% of osteogenesis imperfecta cases are not associated with type I collagen. Classification is based on a combination of the phenotypic appearance and the genetic mutation. Also called osteitis fragilitans, fragilitas ossium congenita, osteopsathyrosis idiopathica, and brittle bones.

    Shapiro Classification System

    congenita A: fractures at birth, bones radiographically abnormal

    congenita B: fractures at birth, bones radiographically normal

    tarda A: first fracture before or at walking stage, bones narrow and osteopenic

    tarda B: first fracture before or at walking stage, bones radiographically normal

    Sillence Classification System (Modified)

    Type IA: mild, dominant inherited, associated with blue sclerae and no skeletal deformity

    Type IB: mild, dominant inherited, associated with blue sclerae, no skeletal deformity, and dentinogenesis imperfecta

    Type II: lethal, recessive inherited, associated with multiple fractures and a short survival; Bauze: Lethal osteogenesis imperfecta

    Type III: severe, recessive inherited, associated with progressive deformity, white or blue sclerae, and nonambulatory status; Bauze: Severe osteogenesis imperfecta

    Type IVA: moderate, inherited dominant new mutation, associated with some deformity and white sclerae in adults; Bauze: Mild osteogenesis

    Type IVB: moderate, new mutation, associated with some deformity, white sclerae in adults, and dentinogenesis imperfecta

  • osteogenesis imperfecta tarda: brittle bone disease expressing itself when child begins to walk; also called Lobstein d. or Lobstein syndrome.

  • osteohalisteresis: loss or deficiency of mineral elements of bones, producing softening.

  • osteolipochondroma: cartilage tumor with bone and fatty elements.

  • osteolipoma: fatty tumor containing osseous elements.

  • osteolysis: dissolution of bone.

    • familial expansile osteolysis: an autosomal dominant bone dysplasia with general and focal skeletal changes occurring in the second decade of life. There is usually pain, osteoclastic resorption, bowing, and a tendency toward pathologic fracture. Deafness and early loss of teeth may also occur.

    • massive osteolysis: rare condition characterized by progressive osteolysis with loss of cortical bone, typically multifocal (regional) bone involvement can have soft tissue masses and effusions, functional impairment related to bone(s) involved, mortality related to pleural effusions. Also called Gorham Stout d., phantom bone d., vanishing bone d., disappearing bone d., hemangiomatosis, lymphangiomatosis, and hemolymphangiomatosis.

    • pubic osteolysis: in adults, a worrisome-appearing lesion that may be mistaken for chondrosarcoma of the pubic bone area. Characterized by progressively destructive radiographic changes, soft tissue mass with calcification, histologic features of metaplastic cartilage, bone formation, and granulation tissue with myxoid and angiomatoid patterns.

  • osteomalacia: a reduction of physical strength of bone caused by decreased mineralization of osteoid; may result from a deficiency of vitamin D, calcium, or phosphorous with or without renal disease. Osteomalacia in the child is associated with the growth deformities of rickets.

  • osteomesopyknosis: autosomal dominant disorder characterized by osteosclerosis similar to that in pyknodysostosis but localized to the axial spine, pelvis, and proximal part of the long bones.

  • osteomyelitis: inflammation of bone marrow, cortex, tissue, and periosteum; can be caused by any organism, but usually bacteria. (See “Infectious Bone Diseases” later in this chapter.)

  • osteomyelodysplasia: thinning of osseous tissue of bone with increase in size of marrow cavities, accompanied by leukopenia (low white blood cell count) and fever.

  • osteonecrosis: death of bone tissue, usually of vascular origin. With collapse within a joint may lead to osteoarthritis.

  • osteopathia striata: affection of bone giving distinct striped appearance on radiographs; lesions characterized by multiple condensation of cancellous bone tissue, sometimes said to be in association with osteopetrosis; also called Voorhoeve d.

  • osteopathy: any disease process of bone.

  • osteopenia: any state in which bone mass is reduced below normal. This includes osteoporosis and osteomalacia. The World Health Organization redefined this to mean that bone density is significantly diminished (DXA T score < –0.1 standard deviation below normal but > –2.5 standard deviation below normal). The term low bone mass is preferred instead of the term osteopenia.

  • osteoperiostitis: inflammation of bone and periosteum.

  • osteopetrorickets: a rare hereditary disorder with defective bone resorption by osteoclasts leading to excessive bone deposition. Due to the inability of the osteoclasts to maintain a normal calcium-phosphorus balance in the extracellular fluid paradoxically rickets appears.

  • osteopetrosis: areas of condensed bone within bone caused by a variety of gene disorders; all true forms are caused by impaired osteoclast mediated bone resorption of the skeleton. The predominant affect genes are responsible for carbonic anhydrase, chloride channel, and integrins. Also called Albers-Schönberg d., osteosclerosis fragilis.

  • osteophlebitis: inflammation of the veins in bone.

  • osteophyte: bony excrescence or osseous outgrowth, usually found around the joint area of bone. Around margins of arthritic joints, osteophytes are formed by new cartilage and bone. Around the spine and at strong ligamentous attachments, a portion of the ligament may turn to bone.

  • osteoplastica: inflammatory bone changes seen in cystic fibrosis.

  • osteopoikilosis: presence of multiple sclerotic foci in ends of long bones and scattered stippling in round and flat bones; usually without symptoms but noted on radiographs.

  • osteoporosis: the current definition by the National Osteoporosis Foundation is a systemic disorder characterized by decreased bone mass, microarchitectural deterioration, and increased susceptibility to fracture in the absence of other recognizable causes. Primary osteoporosis is an age-related disorder characterized by decreased bone mass and increased susceptibility to fractures in the absence of other recognizable causes of bone loss. The most common cause of secondary osteoporosis is immobilization, such as casting. The World Health Organization (WHO) definition is bone density T score < –2.5 standard deviations below normal for 30-year-old individual.

  • osteoradionecrosis: necrosis (death) of bone following irradiation.

  • osteosclerosis: hardening or abnormal denseness of bone.

  • osteosis: Process of bone formation.

  • osteosynovitis: inflammation of synovial membranes and neighboring bones.

  • osteothrombophlebitis: inflammation through intact bone by progressive thrombophlebitis of small venules.

  • osteothrombosis: blood clots or plugging of veins of bone.

  • parosteitis: inflammation of tissues around a bone.

  • parosteosis: ossification of the tissue outside the periosteum.

Infectious Bone Diseases

Osteomyelitis ( Fig. 2-2 ) may be caused by bacteria or fungi. (Viruses have been suggested as a cause, but this has not been proved.)

  • Bacteria associated with osteomyelitis:

    • Staphylococcus aureus

    • Streptococcus organisms

    • Escherichia coli

    • Pseudomonas organisms

    • Klebsiella organisms

    • Salmonella organisms

    • Neisseria gonorrhoeae

    • Mycobacterium tuberculosis

    • Kingella kingae

  • Fungal types (rare):

    • Actinomycosis

    • Blastomycosis

    • Histoplasmosis

Fig. 2-2Different radiographic presentations of subacute osteomyelitis with classification scheme. Growth plate (physis) is below joint surface. Type IA is a punched out lucency suggestive of eosinophilic granuloma. Type IB has a sclerotic margin (not depicted) as seen in a more chronic form called Brodie’s abscess. Type II has loss of metaphyseal cortical bone. Type III has loss of diaphyseal cortical bone. Type IV has onion skin layering of subperiosteal bone. Type V has an epiphyseal lesion. Type VI is an osteomyelitic lesion of the vertebral body. (© 1994 American Academy of Orthopaedic Surgeons. Reprinted from the Journal of the American Academy of Orthopaedic Surgeons , Volume 2(6), pp. 333–341 with permission.)

Terms Related to Osteomyelitis (Bone Infection)

  • acute o.: possibly up to 6 weeks, radiographs may be negative for first 2 weeks.

  • chronic o.: more than 6 weeks; may last for years.

  • chronic recurrent multifocal o. (CRMO): multiple foci of bone inflammation, which tend to be episodic. These are thought to be inflammatory in nature rather than true infections.

  • chronic sclerosing o. of Garré: minimally symptomatic, long-term osteomyelitis associated with radiographic findings of densely scarred bone but not the usual abscess formation.

  • cloacae: in osteomyelitis, these are the openings in the infected sequestra of bone.

  • cystic o.: the radiographic appearance of an aborted osteomyelitis where a fluid-filled cystic cavity remains in the bone.

  • Gledhill classification: for subacute hematogenous osteomyelitis based on bone location and response.

  • iatrogenic o.: an infection brought about by surgery or other treatment.

  • involucrum: bone formation around infected cortical bone.

  • mastocytosis: rare condition associated with accumulation of histamine-producing cells called mastocytes or mast cells. Painless, sclerotic bone lesions can occur.

  • nonsuppurative o.: term applied to tuberculosis of bone. Also called non-pus forming .

  • primary subacute o.: osteomyelitis that presents as localized, progressive bone pain with periods of remission. There is usually little or no systemic illness and no temperature elevation. Radiographic changes are identifiable on the first visit.

  • sequestrum: detached piece of dead bone from sound, healthy bone during process of necrosis.

  • sinus: drainage tract extending from an area of infected bone to skin.

  • suppurative o.: infection of bone with active production of pus; may be acute or chronic.

  • synovitis-acne-pustulosis-hyperostosis osteomyelitis (SAPHO) syndrome: related to the pustulotic arthrosteitis syndrome.

  • Tsukayama classification system for periprosthetic infection: for periprosthetic infections, positive culture at time of initial implantation, infection within 4 weeks of surgery, infection after 4 weeks from surgery, late hematogenous infection.

Tumors of Bone

(Fig. 2-3)

Fig. 2-3Staging of the musculoskeletal tumors. (Netter illustration from . © Elsevier Inc. All rights reserved.)

A staging system for musculoskeletal tumors has gained wide acceptance and is applied to both bone and soft connective tissue. It has been adopted by the Musculoskeletal Tumor Society and may be referred to as the Musculoskeletal Tumor Society Grading System. The system is based on the relationship of the following factors: grade (G), site (T), and metastases (M).

  • Histologic grade:

    • G 1 : low-grade—few mitoses and uniform cell type

    • G 2 : high-grade—many mitoses and atypical cells

  • Site:

    • T 1 : lesion confined within a compartment

    • T 2 : lesion has spread beyond compartment

  • Metastasis

    • M 0 : no metastasis

    • M 1 : metastasis

  • There are three grades, each divided into a and b subgrades.

    • Ia: low grade intracompartmental (G 1 , T 1 , M 0 )

    • Ib: low grade extracompartmental (G 1 , T 2 , M 0 )

    • IIa: low grade intracompartmental (G 2 , T 1 , M 0 )

    • IIb: high grade extracompartmental (G 2 , T 2 , M 0 )

    • IIIa: intracompartmental, metatstatic (G 1-2 , T 1 , M 1 )

    • IIIb: extracompartmental, metastatic (G 1-2 , T 1 , M 1 )

  • Generally no distinction with Grade III – any grade, any size / compartment but + metastasis i.e. III intra or extracompartmental with any metastatic disease

The American Joint Committee on Cancer (AJCC) Staging System ( Table 2-1 ): increasingly used as an alternative or adjunct to the Enneking-Musculoskeletal Tumor Society staging system and is recommended for communication with oncologists and for central registry data entry. It is based on histologic grade, tumor size, spread to lymph nodes, or distant metastases. For treatment purposes, bone cancers are grouped into localized (I–III) and metastatic (IV).

TABLE 2-1 American Joint Committee on Cancer Staging System

Stage T Tumor size Nodes Spread to Lymph Nodes? Metastasis? Histologic Grade
IA T1 (< 8 cm) N0 (No) M0 (none) G1-2 (low)
IB (T2 ≥8 cm) or T3 (multiple sites) N0 M0 G1-2
IIA T1 N0 M0 G3-4 (High)
IIB T2 N0 M0 G3-4
III T3 N0 M0 G3-4
IVA T1-3 N0 Yes (lungs) G1-4
IVB T1-3 N1 (yes) Yes (other) G1-4

The term osteogenic sarcoma formerly defined all the bone sarcomas (e.g., osteosarcoma, chondrosarcoma, and fibrosarcoma). Currently, more specific terms are preferred.

Benign tumors of bone are classified by the type of neoplastic tissue within the lesion. Nine general categories of tumors are described in the classification system of the WHO.

  • I.

    Bone-forming tumors

    • 1.


    • 2.

      osteoid osteoma

    • 3.


  • II.

    Cartilage-forming tumors

    • 1.


    • 2.


    • 3.


    • 4.

      chondromyxoid fibroma

  • III.

    Marrow tumors (none)

  • IV.

    Vascular tumors

    • 1.


    • 2.


    • 3.

      glomus tumor

  • V.

    Other connective tissue tumors

    • 1.

      desmoplastic fibroma

    • 2.


    • 3.

      fibrous histiocytoma

  • VI.

    Other tumors

    • 1.


    • 2.


  • VII.

    Unclassified tumors (none)

    • 1.

      giant cell tumors

  • VIII.

    Tumor-like lesions

    • 1.

      solitary bone cyst

    • 2.

      aneurysmal bone cyst

    • 3.

      metaphyseal fibrous defect

    • 4.

      eosinophilic granuloma

    • 5.

      fibrous dysplasia

    • 6.

      osteofibrous dysplasia

    • 7.

      myositis ossificans

    • 8.

      brown tumor of hyperparathyroidism

    • 9.

      intraosseous epidermoid cyst

    • 10.

      giant cell (reparative) granuloma

Harrington Pathologic Classification for Impending Pathologic Fracture

> 50% destruction of diaphyseal cortices

> 50–75% destruction of metaphysis (> 2.5 cm)

Permeative destruction of the subtrochanteric femoral region

Persistent pain following irradiation

Mirels Scoring System ( Table 2-2 ): for metastatic bone tumors, a weighted scoring system to estimate the risk of sustaining a pathologic fracture through a lesion in a long bone. Using this system, a score of 8 or higher represents a high risk of pathologic fracture and consideration for prophylactic internal fixation.

TABLE 2-2 Mirels Scoring System

Variable Score
1 2 3
Site Upper Lower Peritrochanteric
Pain Mild Moderate Functional
Lesion Blastic Mixed Lytic
Size <⅓ diameter ⅓–⅔ diameter > ⅔ diameter

Li-Fraumeni syndrome: rare genetic predisposition for cancer including sarcomas. Due to a mutation in the p53 tumor suppressor gene.

General Terms

  • skip metastasis: in osteosarcoma, presentation with synchronous regional bone metastases (skip metastases), either in the primary bone site or transarticular. Prognosis is considered to be extremely poor in many cases.

  • tumor capsule: a layer of compressed normal tissue surrounding a tumor.

  • tumor pseudo-capsule: a layer of compressed normal tissue and neoplastic tissue surrounding a tumor.

Bone Tumors

  • osteoblastoma: a benign, locally aggressive tumor composed mostly of osteoblasts, occasional giant cells, fibrovascular tissue, and new bone formation; generally located in the spine (favoring posterior elements) or diaphysis of long bones.

  • osteoid osteoma: a benign vascular tumor characterized by a small nidus of fibrovascular neoplastic cells and abundant surrounding reactive bone, often seen as a thick sclerotic border radiographically and histologically. Typically located in the cortex of long bones.

  • osteoma: benign tumor characterized by dense bone production; frequently located in the skull.

  • osteosarcoma: a high-grade malignant bone tumor (sarcoma) characterized by osteoid production by malignant stromal cells with variable morphologic characteristics. Typically generally located in the medullary cavity of the metaphyseal region of the distal femur, proximal tibia, and proximal humerus. It is characterized by osteoid production by malignant osteoblasts, with variable amounts of cartilage being present.

  • parosteal osteosarcoma: a low-grade malignant bone tumor characterized by osteoid formation by malignant stromal cells. This tumor is located on the outer surface of the periosteum, without involvement of the medullary cavity. Posterior cortex of the distal femur is a common location.

  • periosteal osteosarcoma: an intermediate-grade malignant bone tumor located beneath the periosteum but outside the cortex characterized by osteoid production by malignant stromal cells. Histologically, these osteosarcomas frequently contain cartilaginous elements.

  • secondary osteosarcoma: osteosarcoma that arises in preexisting pathologic bone, such as in Paget disease or following irradiation treatment.

  • telangiectatic osteosarcoma: intramedullary high-grade osteosarcoma characterized by abundant vascular changes and mesenchymal tissue in conjunction with sparse malignant osteoid production; also called osteotelangiectasia.

Cartilage Tumors

  • chondroblastoma: benign tumor composed of chondroblasts (immature chondrocytes), giant cells, and sparse chondroid material. Calcification often appreciated surrounding the chondroblasts (chicken-wire calcification). This tumor generally is located in the epiphysis in the skeletally immature; also called Codman’s tumor when found in the epiphyseal area of the proximal humerus.

  • chondroma: an extraosseous benign tumor that contains mature chondrocytes in a cartilage matrix often surrounded by a rim of reactive bones. Varying degrees of calcification can be appreciated on radiographs and histologic examination.

  • chondromyxoid fibroma: a benign, locally aggressive tumor composed of cartilage and myxomatous and fibrous components; commonly located in the proximal tibia.

  • chondrosarcoma: a malignant tumor characterized by cartilage production by malignant stromal cells.

  • clear cell chondrosarcoma: malignant cartilage tumor that histologically is characterized by clear, vacuolated cells and frequently is located in the epiphysis.

  • dedifferentiated chondrosarcoma: malignant tumor in which a well-differentiated low-grade cartilaginous component is associated with a poorly differentiated non-cartilaginous neoplasm of higher grade.

  • enchondroma: an intraosseous benign cartilage tumor; similar both radiographically and histologically to a chondroma with mature chondrocytes and cartilage matrix.

  • enchondromatosis: proliferation of multiple benign cartilaginous neoplasms within the metaphysis of several bones. It can result in thinning of the overlying cortices and distortion of length in growth. Higher risk of malignant transformation into secondary chondrosarcoma than a single enchondroma (Ollier d.), and when associated with phleboliths (Maffucci’s d.).

  • epiphyseal osteochondroma: development of intraosseous cartilage lesion within the epiphysis with occasional extension beyond epiphyseal margins. May occur from infancy to adulthood. Formerly called osteomatosis, epiphyseal exostosis, intraarticular osteochondroma, epiarticular osteochondroma, dysplasia epiphysealis hemimelica, and epiarticular osteochondromatous dysplasia.

  • mesenchymal chondrosarcoma: tumor with a well-differentiated cartilaginous component associated with high-grade malignant round or spindle cell component.

  • multiple osteochondromatosis: multiple osteochondromas located in the metaphysis of long bones and pelvis resulting in growth abnormalities, with an autosomal dominant inheritance pattern; also called multiple hereditary exostosis.

  • osteochondroma: a cartilage-capped cortically based benign tumor demonstrating continuity of the cortex and medullary canal with underlying bone; generally located in the distal femur, proximal tibia, or proximal humerus. Can be pedunculated (with a stalk) or sessile (no stalk visualized); also called exostosis.

  • parosteal chondrosarcoma: malignant, cartilage-producing tumor arising from the surface of the bone.

  • periosteal chondroma: a cortically based benign cartilage tumor located between the periosteum and bone cortex characterized by cartilage and active chondrocytes.

  • secondary chondrosarcoma: cartilage malignancy occurring in a previously benign cartilage tumor, such as an osteochondroma or enchondroma.

  • solitary epiphyseal enchondromas: An enchondroma seen in the long bones of younger individuals some of which have open epiphyses. Most common site is the humeral head.

Round Cell Tumors

  • eosinophilic granuloma (formerly histiocytosis X): term used to describe what is now called Langerhans cell histiocytosis.

  • Ewing’s sarcoma: high-grade malignant tumor commonly presenting in children; characterized by monotonous sheets of small round cells.

  • Hand-Schüller-Christian d.: one of the so-called histiocytosis X group of diseases; a complex of bony tumors caused by either accumulation of cholesterol, metabolic error, or neoplasm; characterized by eosinophilic granuloma, exophthalmos, and diabetes insipidus.

  • Hodgkin tumor: low-grade malignant process involving the lymphatic system, with rare 13% bone involvement characterized by Reed-Sternberg cells.

  • Langerhans cell histiocytosis: formerly called histiocytosis X and eosinophilic granuloma ; a nonneoplastic condition characterized by monocyte-­macrophage lineage cell infiltration of multiple organs, including bone. Histologically composed of masses of histiocytes (Langerhans cell), cholesterol, and eosinophils. Common locations include the pelvis, scapula, and diaphysis of long bones in children. Associated with cranial disorder, diabetes insipidus, and exophthalmo­sitis.

  • Letterer-Siwe d.: most severe form of Hand-Schüller-Christian d., it can be fatal in infancy.

  • lymphoma: a general term for neoplastic growth of a single cell lineage of the lymphatic system. Many types exist and are classified by neoplastic cell type (B lymphocyte, T cell lymphocyte, etc.).

  • multiple myeloma: common malignant tumor characterized by multiple lytic lesions of bone and caused by a neoplastic proliferation of plasma cells.

  • myeloblastoma: benign tumor of bone marrow.

  • myeloproliferative disease: any bone marrow condition resulting in abnormal increase in the number of specific bone marrow cells.

  • plasmacytoma: uncommon malignant tumor characterized by a single lytic focus of neoplastic plasma cells in a bone. Often progresses to multiple myeloma.

  • primary lymphoma of bone: a rare variant of malignant lymphoma that occurs in bone, without involvement of the lymphatic system or the typical systemic presentation of lymphomas. Characterized by multiple malignant lymphocytes in bone.

Fibrous Tumors

  • desmoplastic fibroma of bone: an aggressive but benign fibrous tumor characterized by spindle cells and dense fibrous (collagenous) matrix.

  • fibrosarcoma: a malignant tumor characterized by malignant fibroblastic cells and no significant matrix production, with a herringbone pattern histologic appearance.

  • Jaffe-Campanacci syndrome: combination of nonossifying fibromata, café-au-lait spots, mental retardation, hypogonadism or cryptorchidism, and ocular and cardiovascular malformations.

  • malignant fibrous histiocytoma: malignant tumor consisting of pleomorphic fibrous and histiocytic cell proliferation without osteoid or chondroid production; also called an undifferentiated pleomorphic sarcoma.

  • nonossifying fibroma: common benign fibrous tumor presenting in childhood; located in the metaphysis of long bones. Characterized by whorling patterns of spindle cells, fibrous tissue, numerous xanthoma cells, and occasionally giant cells; also called fibroxanthoma, cortical desmoid, and metaphyseal fibrous defect.

Other Tumors

  • adamantinoma: a malignant epithelial tumor of bone characterized by epithelial and sarcomatous components, typically located in the anterior cortex of the tibia.

  • chordoma: a malignant tumor commonly located in the sacrum or cervical spine; arises from residual notochord tissue with the characteristic physaliferous cells noted on histologic examination.

  • giant cell tumor: benign aggressive lesion consisting of osteoclast-like giant cells located in the metaphysis and epiphysis of long bones, frequently extending to subchondral bone. Lytic and expansile on radiographs without any reactive bone formation. Also called osteoclastoma.

  • Nora tumor: an unusual surface tumor of bone, synonymous with bizarre parosteal osteochondromatous proliferation. Also called bizarre parosteal osteochondromatous proliferation (BPOP).

Soft Tissue Tumors

Soft tissue tumors can be benign or malignant (sarcomas) and are generally characterized by the tissue they most resemble histologically. This classification process is often augmented by additional pathologic testing, including immunohistochemistry and translocation studies. The staging of soft tissue sarcomas is determined by the tumor size and depth, histologic grade, and whether the tumor has spread to lymph nodes or distant sites (frequently the lungs).

The 2010 AJCC staging system for soft tissue sarcomas system is summarized in Table 2-3 .

  • angiosarcoma: malignant soft tissue tumor arising from blood vessels (hemangiosarcoma) or lymphatics (lymphangiosarcoma).

  • chondrofibroma: benign fibromatous soft tissue tumor with cartilaginous elements.

  • chondrolipoangioma: a well-circumscribed tumor in which there is a predominance of mature cartilage, mature blood vessels, and mature fat.

  • chondrolipoma: fatty soft tissue tumor containing cartilaginous elements.

  • chondromyoma: benign soft tissue tumor characterized by muscle and cartilaginous elements.

  • clear cell sarcoma: soft tissue sarcoma characterized by clear, vacuated-appearing cells; commonly occurs in the foot.

  • dermatofibrosarcoma protuberans (DFSP): typically low-grade, slow-growing malignant tumor that frequently occurs in a subcutaneous location with fibroblasts and collagenous stroma.

  • elastofibroma: benign tumor usually seen in a subscapular location. It is a slow-growing, firm, mass that microscopically contains collagen and elastin fibers with few fibroblasts.

  • epithelioid sarcoma: soft tissue tumor composed of epithelial-like cells and sarcomatous cells, frequently occurring in the hand.

  • extraabdominal desmoid: a soft tissue tumor characterized by dense collagen; can be locally aggressive with a high local recurrence rate; also called aggressive fibromatosis, extraabdominal fibromatosis.

  • fibroma: benign fibroblastic soft tissue tumor.

  • fibromatosis: term used for a variety of conditions including plantar and palmar fibromatosis, neurofibromatosis, and a more aggressive and locally invasive fibromatosis called aggressive fibromatosis or extraabdominal fibromatosis .

  • hemangioendothelioma: rare, well-differentiated (low-grade), soft tissue sarcoma composed mostly of endothelial cells.

  • hemangioma: benign soft tissue tumor of dilated blood vessels; when occurring near the skin, may cause patchy discoloration; can also occur intramuscularly.

  • hemangiopericytoma: soft tissue tumor composed of perivascular tissue, spindle cell tumor which arises from pericytes. This soft tissue tumor may be benign or malignant; also called solitary fibrous tumor (preferred).

  • hemangiosarcoma: malignant blood vessel tumor; also called angiosarcoma.

  • hibernoma: benign lipomatous soft tissue tumor in which the fat cells resemble vestigial brown fat.

  • high-grade pleomorphic undifferentiated sarcoma (HGPUS or UPS): soft tissue sarcoma that histologically does not resemble any recognizable tissue type and cannot be otherwise classified; a diagnosis by exclusion.

  • leiomyoma: benign soft tissue tumor histologically resembling smooth muscle.

  • leiomyosarcoma: malignant soft tissue tumor with histologic characteristics resembling smooth muscle cells.

  • lipoblastoma: benign soft tissue tumor characterized by immature fat cells.

  • lipofibroma: benign soft tissue tumor of fibrous and fatty tissue.

  • lipoma: fatty tumor; tumor made up of benign fat cells.

  • liposarcoma: malignant soft tissue tumor composed of lipoblasts and malignant stromal cells.

  • malignant fibrous histiocytoma: term previously used to describe a group of malignant soft tissue tumors; terminology has changed and this is no longer an accepted subtype of soft tissue sarcoma. Also called malignant fibrous xanthoma, fibroxanthosarcoma, and malignant giant cell tumor of soft tissue.

  • myoblastoma: tumor of striated muscle consisting of groups of granular-appearing cells resembling primitive myoblasts.

  • myocytoma: benign muscle tumor.

  • myofibroma: muscular and fibrous tumor; fibroma containing muscular elements.

  • myolipoma: fatty tumor of muscle.

  • myxoma: benign soft tissue tumor containing ­myxoid cells.

  • myxofibrosarcoma: soft tissue sarcoma with myxoid and fibrous histologic features.

  • neurofibroma: abnormal proliferation of nerve sheath cells; may be dermal or plexiform, includes Schwann cells and other types of cells and structures

  • neurofibrosarcoma: malignant tumor of nerve sheath tissue; also called malignant peripheral nerve sheath tumor (MPNST) and malignant Schwannoma.

  • neurolemmoma: also called Schwann tumor and schwannoma, abnormal proliferation of benign nerve sheath Schwan Cells.

  • rhabdomyosarcoma: a high-grade sarcoma with histologic characteristic resembling skeletal muscle, with many histologic subtypes, including alveolar, embryonal, and pleomorphic.

  • synovial cell sarcoma: a malignant tumor composed of spindle cells; histologic architecture often resembles a growth pattern that resembles the appearance of synovium.

  • synovioma: a benign tumor of the synovial membrane.

TABLE 2-3 American Joint Committee on Cancer Staging System

Stage Grade Size Nodal Disease Metastasis
IA G1 T1a, T1b N0 M0
IB G1 T2a, T2b N0 M0
IIA G2, G3 T1a, T1b N0 M0
IIB G2 T2a, T2b N0 M0
III G3Any G T2a, T2bAny T N0N1 M0M0
IV Any G Any T Any N M1

Grade: G1 (low grade), G2 (intermediate grade), G3 (high grade)

Tumor: T1 (less than 5 cm), T2 (greater than 5 cm), a (superficial), b (deep/subfascial)

Nodes: N0 (no detectable node metastasis); N1 (regional lymph node metastasis)

Metastasis: M0 (no distant mets); M1 (distant mets)

Miscellaneous Bone Conditions

  • acroosteolysis: resorption of bone that involves the distal regions of the limbs but most commonly the phalanges of the fingers.

  • algodystrophy syndrome: association of pain and dystrophic changes in bone.

  • aneurysmal bone cyst: single or multiple benign, blood-filled cysts of bone.

  • apophysitis: inflammation of an apophysis. Depending on the location, specific types may be referred to as:

    • Iselin d.: base of the fifth metatarsal

    • Osgood-Schlatter d.: tibial apophysis at the insertion of the patellar tendon

    • Sever d.: apophysitis of the heel bone at the insertion of the Achilles tendon

    • Scheuermann d.: osteochondrosis of the vertebral epiphysis in juveniles

    • Sinding-Larsen-Johansson d.: apophysitis of the distal pole of the patella

  • aseptic necrosis: the term osteonecrosis is preferred and is (bone death) caused by vascular insult, usually at the end of a bone. In adults, the most common symptom producing aseptic necrosis occurs in the femoral head (avascular necrosis). In children, aseptic necrosis is called epiphyseal ischemic necrosis or epiphyseal aseptic necrosis. The precise pathologic condition of these diseases is debatable; therefore the term is used here in reference to epiphyseal osteochondritis or by area:

    • Assmann d.: head of first metatarsal

    • Buchman d.: medial cuneiform

  • Dietrich d.: avascular necrosis of a metacarpal head

    • Freiberg d.: second metatarsal head

    • Iselins d.: base of the fifth metatarsal

    • Kappis d.: talus

    • Kienböck d.: lunate bone of wrist

    • Köhler d.: tarsal navicular; sometimes of the patella

    • Kümmell disease: vertebral body

    • Lance d.: cuboid

    • Legg-Calvé-Perthes d.: femoral head; also called Legg-Perthes d., Perthes d., and coxa plana

    • Panner d.: capitellum of the humerus

    • Silfverskiöld d.: calcaneus

    • Thiemann d.: proximal phalanges

    • Wagner d.: base of the first metatarsal

Aseptic necrosis is also called avascular necrosis. The term osteonecrosis is preferred. The following are classification systems for aseptic necrosis.

Elizabethtown Classification (Modified) for Determining Stage of Femoral Head Osteonecrosis

Stage Ia: Sclerosis of the epiphysis with no loss of height.

Stage Ib: Sclerosis of the epiphysis with loss of height but no fragmentation.

Stage IIa: Early fragmentation with just one or two vertical fissures in the epiphysis on the AP or frog leg lateral view.

Stage IIb: Advanced fragmentation with no new bone lateral to the fragmented epiphysis.

Stage IIIa: early “porotic” new bone formation at the periphery of the epiphysis covering less than a third of the epiphysis.

Stage IIIb: New bone formation of “normal” texture and covers more than a third of the epiphysis.

Stage IV: Complete healing with no radiographically identifiable avascular bone.

Herring (Lateral Pillar) Classification (Modified) for Osteonecrosis of the Femoral Head

Group A: lateral pillar not involved, no collapse.

Group B: greater than 50% lateral pillar height maintained.

Group B/C: greater than 50% of lateral pillar height, column is narrow (2–3 cm), or approximately 50% of pillar height maintained with poor ossification, or 50% pillar height maintained but depressed relative to central pillar.

Group C: less than 50% of lateral pillar height maintained.

International Classification for Osteonecrosis of the Femoral Head (ARCO)

Stage 0: bone biopsy results consistent with avascular necrosis; normal findings in all other tests.

Stage I: positive scintiscan or magnetic resonance image (MRI); lesions subdivided into medial, central, or lateral depending on location and involvement of femoral head.

  • I-A: < 15% involvement of femoral head

  • I-B: 15%–30% involvement of femoral head

  • I-C: > 30% involvement of femoral head

Stage II: radiographic abnormalities (mottled appearance of femoral head, osteosclerosis, cyst formation, and osteopenia); no signs of collapse of femoral head on radiographs or computerized tomography scan; positive scintiscan and MRI; no changes in acetabulum; lesions subdivided into medial, central, or lateral depending on location of involvement of femoral head.

  • II-A: < 15% involvement of femoral head

  • II-B: 15%–30% involvement of femoral head

  • II-C: > 30% involvement of femoral head

Stage III: crescent sign; lesions subdivided into medial, central, or lateral depending on location of involvement of femoral head.

  • III-A: < 15% crescent sign or < 2-mm depression of femoral head

  • III-B: 15%–30% crescent sign or 2- to 4-mm depression of femoral head

  • III-C: > 30% crescent sign or 4-mm depression of femoral head

Stage IV: Articular surface flattened radiographically and joint space shows narrowing; change in acetabulum with evidence of osteosclerosis, cyst formation, and marginal osteophytes.

Japanese Investigation Committee for Osteonecrosis of the Femoral Head Based on Location on T1-weighted Images or X-ray Image. Staging Based on Anteroposterior and Lateral Views of the Femoral Head on X-ray Images.

Type A: occupy the medial one-third or less of the weight-bearing portion.

Type B: occupy the medial two-thirds or less of the weight-bearing portion.

Type C1: occupy more than the medial two-thirds of the weight-bearing portion but do not extend laterally to the acetabular edge.

Type C2: occupy more than the medial two-thirds of the weight-bearing portion and extend laterally to the acetabular edge

Stage 1: there are no specific findings of osteonecrosis on x-ray images.

Stage 2: demarcating sclerosis is observed without collapse of the femoral head.

Stage 3A: collapse of the femoral head is less than 3 mm.

Stage 3B: collapse of the femoral head is 3 mm or greater.

Stage 4: osteoarthritic changes are observed.

International Classification for Osteonecrosis of the Femoral Head (ARCO)

  • Stage 0: bone biopsy results consistent with avascular necrosis; normal findings in all other tests.

  • Stage I: positive scintiscan or magnetic resonance image (MRI); lesions subdivided into medial, central, or lateral depending on location and involvement of femoral head.

  • I-A: < 15% involvement of femoral head

  • I-B: 15%–30% involvement of femoral head

  • I-C: > 30% involvement of femoral head

  • Stage II: radiographic abnormalities (mottled appearance of femoral head, osteosclerosis, cyst formation, and osteopenia); no signs of collapse of femoral head on radiographs or computerized tomography scan; positive scintiscan and MRI; no changes in acetabulum; lesions subdivided into medial, central, or lateral depending on location of involvement of femoral head.

  • II-A: < 15% involvement of femoral head

  • II-B: 15%–30% involvement of femoral head

  • II-C: > 30% involvement of femoral head

  • Stage III: crescent sign; lesions subdivided into medial, central, or lateral depending on location of involvement of femoral head.

  • III-A: < 15% crescent sign or < 2-mm depression of femoral head

  • III-B: 15%–30% crescent sign or 2- to 4-mm depression of femoral head

  • III-C: > 30% crescent sign or 4-mm depression of femoral head

  • Stage IV: Articular surface flattened radiographically and joint space shows narrowing; change in acetabulum with evidence of osteosclerosis, cyst formation, and marginal osteophytes.

Lichtman Classification for Osteonecrosis of the Lunate in the Wrist

Stage I: linear line possibly seen across lunate or no radiographic finding.

Stage II: definite density changes in lunate compared with other carpal bones.

Stage III: lunate collapse with proximal migration of capitate.

Stage IV: Stage III plus degenerative changes in the carpus.

Pittsburgh for Osteonecrosis of the Femoral Head

To review this complex magnetic resonance imaging–based classification system, see Babis et al., 2011.

Ratliff classification: for osteonecrosis of the femoral head following femoral neck fractures in children

Type I: total involvement of the femoral head

Type II: partial involvement of the femoral head

Type III: involvement of only the femoral neck, from the physis to the fracture line

Revised ARCO Classification for Osteonecrosis of the Femoral Head

Stage 1: x-ray normal MRI abnormal.

Stage 2: x-ray is abnormal (subtle signs of osteosclerosis, focal osteoporosis, or cystic change in the femoral head) but without any evidence of subchondral fracture, fracture in the necrotic portion, or flattening of the femoral head.

Stage 3: fracture in the subchondral or necrotic zone as seen on x-ray or computed tomography scans.

Stage 3A: early, femoral head depression ≤2 mm.

Stage 3B: late, femoral head depression >2 mm.

Stage 4: x-ray evidence of osteoarthritis with accompanying joint space narrowing, acetabular changes, and/or joint destruction.

Steinberg Classification for Ostenecrosis of the Hip

(Fig. 2-4)

  • Stage 0: normal radiograph, bone scan, and MRI

  • Stage I: normal radiograph; abnormal bone scan or MRI

  • Stage II: sclerosis or cyst formation in femoral head

  • A: mild (15% of head)

  • B: moderate (15%–30%)

  • C: severe (> 30%)

  • Stage III: subchondral collapse (crescent sign) without flattening

  • A: mild (15% of surface)

  • B: moderate (15%–30%)

  • C: severe (> 30%)

  • Stage IV: flattening of femoral head without joint narrowing or acetabular involvement

  • A: mild (15% of surface and < 2-cm depression)

  • B: moderate (15%–30% of surface and 2- to 4-mm depression)

  • C: severe (> 30% of surface or > 4-mm depression)

  • Stage V: flattening of head with joint narrowing or acetabular involvement

  • A: mild (15% of surface and < 2-cm depression)

  • B: moderate (15%–30% of surface and 2- to 4-mm depression)

  • C: severe (> 30% of surface or > 4-mm depression)

  • Stage VI: advanced degenerative changes

Fig. 2-4Steinberg classification. A, Very early osteonecrosis of the femoral head (Steinberg stage 2). The femoral head shows sclerotic and radiolucent areas. B, Early osteonecrosis of the femoral head (Steinberg stage 3). There is a short break in the cortical line of the superolateral segment of the femoral head. C, Osteonecrosis of the femoral head (Steinberg stage 4). Mild flattening of the superolateral part of the femoral head despite long-standing disease. D, Advanced osteonecrosis of the femoral head (Steinberg stages 5–6). Gross destruction and remodeling of the femoral head. Osteoarthritic changes are significant. (From Hagley K, De Ceulaer K: Joint and bone lesions in hemoglobinopathies. In Hochberg MC et al., editors: Rheumatology, ed 6. Philadelphia, 2011, Elsevier, Figs. 191-5 to 8.)

Fig. 2-5Blount disease.

Fig. 2-6Disease conditions that affect the epiphysis often also affect the physis, which is the growth plate or epiphyseal plate. (Netter illustration from . © Elsevier Inc. All rights reserved.)

  • bone infarct: area of bone where blood supply is interrupted.

  • bone island: small areas of compact but microscopically normal bone that appear as 0.5- to 1-cm areas on radiographs.

  • bone spur: ossification of ligamentous or muscular attachment to bone. Generally applied to any bony excrescence seen on radiographs, but specifically refers to a portion of ligament or tendon that has turned to bone at the attachment to bone. The most common areas include the heel, patella, humeral epicondyles, and vertebral body margins.

  • brown tumor: brown-appearing lesion in bone secondary to hyperparathyroidism; also called osteoclastoma.

  • caisson disease: avascular necrosis of bone (and soft tissue) caused by sudden increase and release in air pressure causing infarct; also called diver’s disease.

  • cleidocranial dysostosis: autosomal dominant defect of a core binding protein (cfba-1, RUNX2) resulting either poorly developed or absent collarbones. The front of the skull often does not close until late. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Affected individuals are often shorter than average.

  • condensing osteitis of the clavicle: rare and benign disorder of unknown origin affecting the medial clavicle, characteristically in women of late childbearing age. The level of discomfort varies, and radiographs reveal a slight expansion of the medial one-third of the clavicle.

  • congenital pseudarthrosis: inborn propensity for breakdown of integrity of midshaft of tibia with formation of a false joint. There are six types:

    • Type I: congenital anterior bowing and defect in tibia. There may be other congenital deformities.

    • Type II: congenital anterior bowing and hourglass deformity of tibia. Fracture occurs usually before 2 years of age.

    • Type III: bone cyst forms first, then bowing or fracture.

    • Type IV: sclerotic bone, then fracture occurs.

    • Type V: dysplastic fibula may develop pseudarthrosis of tibia or fibula.

    • Type VI: intraosseous neurofibroma or schwannoma may develop, but usually does not result in pseudarthrosis.

  • cortical fibrous dysplasia: benign anomaly of bone cortex, usually found in children and characterized by a cystic-appearing lesion on radiographs. Microscopically, this lesion is characterized by a fibrous replacement of cortex with some trabecular bone; also called ossifying fibroma of long bone, intracortical fibrous dysplasia.

  • exostosis: excess bone formation, usually near a joint.

    • hypertrophic exostosis: sometimes used to describe excess bone formation in osteoarthritis.

    • multiple hereditary exostoses: autosomal dominant disorder of EXT or EXT2 genes resulting in multiple bony excrescences growing from cortical surfaces. May be pedunculated or sessile. Also called Jaffe d. and Beggel-Hansen d.

  • fibrodysplasia ossificans progressiva: autosomal dominant disease of BMP 4 and autosomal recessive disorder of BMP 1 receptor type 1A ( ACVR1 ) resulting in connective tissue disease in which soft tissue ossification leads to skeletal malformation and disability; also called myositis ossificans progressiva, hyperplasia fascialis ossificans progressiva, myositis fibrosa generalisata, and fibrositis ossificans progressiva.

  • fibrogenesis imperfecta ossium: rare inherited disorder in which bone in adults is replaced with collagen-deficient tissue throughout the skeleton, resulting in multiple fractures.

  • giant cell reparative granuloma: common benign lesion of the jaw characterized by a fibrous background within which there are scattered multinucleated giant cells. A multicentric form is seen in the small bones of the hands and feet.

  • heterotopic ossification: formation of normal bone at ectopic soft tissue locations. In the acquired form, abnormal bone formation usually follows trauma, burns, or surgery, and will sometimes occur around joints after a closed head injury. Two rare heritable and developmental forms are fibrodysplasia ossificans and progressive osseous heteroplasia.

    Brooker Classification for Heterotopic Ossification

    Class I: islands of bone within the soft tissues about the hip.

    Class II: bone spurs from the pelvis or proximal end of the femur, leaving at least 1 cm between opposing bone surfaces.

    Class III: bone spurs from the pelvis or proximal end of the femur, reducing the space between opposing bone surfaces to less than 1 cm.

    Class IV: apparent bone ankylosis of the hip.

    Della Valle Classification for Heterotopic Ossification

    A Absence of heterotopic ossification and presence of one or more islands of bone less than 1 cm long.

    B Presence of one or more islands of bone at least 1 cm long and presence of bone spurs from the pelvis or femur, leaving at least 1 cm between opposing surfaces.

    C Presence of bone spurs from the pelvis or femur, leaving less than 1 cm between opposing surfaces and apparent bone ankylosis.

    Hamblen Classification of Heterotopic Ossification

    Grade 0: no ossification.

    Grade I: formation of new bone involving less than one-third of the area of the hip occupied by the femoral head and capsule.

    Grade II: formation of new bone involving between one- and two-thirds of the same area of the hip.

    Grade III: formation of new bone involving more than two-thirds of that area of the hip.

  • hypophosphatasia: rare (1 in 100,000) usually autosomal-recessive bone disorder resulting from deficient alkaline phosphatase activity, characterized by defective mineralization of the skeletal and dental structures leading to an appearance of rickets and very low alkaline phosphatase. There are four types based on the severity of alkaline phosphatase abnormality: perinatal hypophosphatasia with neonatal death, infantile hypophosphatasia presenting in the first year of life with severe skeletal fractures, childhood hypophosphatasia with rickets appearance and abnormal teeth, and adult hypophosphatasia with osteoporosis and fractures.

  • infantile cortical hyperostosis: painful hyperostosis with involvement of long bones and the mandible. This usually occurs in infants 5 months of age and younger and is associated with irritability, fever, and soft tissue swelling; also called Caffey d.

  • intraosseous lipoma: rare condition of benign fatty tumor that develops in the medullary canal of a long bone.

  • intraosseous lipomatosis: very rare disorder of progressive systemic development of leg and foot lipomas in medullary canals, producing bone pain and pathologic fractures.

  • intraosseous pneumatocyst: rare benign small pocket of air that appears usually in iliac bone. No treatment is required.

  • longitudinal epiphyseal bracket: ossification anomaly in which an abnormal arcuate or C-shaped secondary ossification center brackets a tubular bone in the hand or foot.

  • malacoplakia: disease that usually involves the gut and has a probable infectious cause. Histiocytes respond with the formation of Michaelis-Gutmann bodies. Bone lesions are rare and can be destructive.

  • melorheostosis: form of osteosclerosis or hyperostosis (dense bone); linear longitudinal thickenings of the shaft of long bones, very rare, resulting in a candle wax (dripping) appearance of the bone.

  • milk-alkali disease: excess calcium in tissue resulting from heavy ingestion of milk and certain antacids.

  • myelofibrosis: replacement of bone marrow by fibrous tissue.

  • ochronosis: hereditary error of protein metabolism marked by accumulation of homogentisic acid resulting in degenerative arthritis and a characteristic blackening of cartilage.

  • ossifying fibroma of the jaw: fibroma of the jaw with histologic appearance of small areas of ossification. This is in distinction to the rare ossifying fibroma of long bones.

  • pachydysostosis: enlargement of fibular length resulting in bowing of the leg.

  • periostitis: inflammation of bone covering (periosteum); usually the result of an infection such as syphilis.

  • progressive diaphyseal dysplasia: neuromuscular dystrophy associated with general wasting; abnormally formed shafts of long bones; also called Engelmann d.

  • progressive osseous heteroplasia: heritable disease characterized by focal dermal ossification with progression to intramembranous ossification of subcutaneous fat and deeper tissues leading to ankylosis. Hemimelic progressive osseous heteroplasia is a very rare condition in which only one side of the body is involved.

  • pulmonary osteodystrophy: hypertrophic cortical bone changes occurring near joints in the long bones of patients with chronic lung disease.

  • pyknodysostosis: is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. Pyconodysostosis causes the bone to be abnormally dense and brittle, as well as absorption of bone in the terminal phalanges.

  • regional migratory osteoporosis: most often seen in middle-aged men; characterized by arthralgias of lower limb joints, severe intercurrent osteoporosis, with symptoms lasting 6 to 9 months with recovery.

  • rickets: failure of deposition of bone salts within the organic matrix of cartilage and bone associated with stunting of growth and bone deformities.

  • Rothmund-Thomson syndrome (RTS): characterized by growth retardation, thin eyebrows and lashes, juvenile cataracts, sunlight sensitivity, hypogonadism, and teeth abnormalities. This is associated with an increased risk for cancer, such as cutaneous epitheliomas (basal, squamous), gastric adenocarcinoma, fibrosarcoma, and osteosarcoma.

  • skeletal amyloidosis: deposition of amyloid β-microglobulin material in bone that produces bubbly appearing lesions on radiographs. Condition is associated with plasma cell dyscrasias, primary systemic amyloidosis, focal amyloidosis, and those undergoing hemodialysis for chronic renal insufficiency.

  • slipped capital femoral epiphysis (SCFE): gradual or sudden movement of the femoral head toward a posterior and medial direction; usually occurs in preteenage children. In the United States, the acronym SCFE is so common that the slang word “skiffy” is used.

  • solitary fibromatosis of bone: similar to generalized fibromatosis, except bone lesion is isolated to one location. Systemic symptoms do not occur.

  • subperiosteal giant-cell reparative granuloma: self-limited condition seen in older adults characterized by subperiosteal bony lesions located in cortical bone of the diaphysis with giant cells and reparative cells with bone formation; also called subperiosteal ABC, periostitis ossificans, florid reactive periostitis, and pseudomalignant fibroosseous tumors.

  • transient osteopenia: decreased bone mass usually following immobilization or injury. Most often, bone mass is recovered. It may be seen as a spontaneous event in the juvenile hip.

  • uncommitted metaphyseal lesion: benign but radiologically aggressive-appearing lesion seen in the proximal metaphysis of children, microscopically characterized by whorls of fibrous tissue, new bone, giant cells, and vascular components.

  • unicameral bone cyst: benign bone anomaly in which a fluid-filled cavity is seen in the metaphysis of a long bone of a child. Microscopically, the cavity is lined with fibrous stroma, curlicues of trabecular bone similar to fibrous dysplasia, and cholesterol clefts.

  • weaver’s bottom: ischial gluteal bursitis often seen in patients with a sedentary occupation.

Eponymic Bone Diseases

  • Albers-Schönberg d.: osteopetrosis affecting the ends of bone; also called chalk bones and marble bones.

  • Albright syndrome: is characterized by fibrous dysplasia of bone occurring with at least two additional findings—patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged borders) and dysfunction of multiple endocrine glands that regulate the body’s rate of growth, sexual development, and other metabolic functions. It is caused by spontaneous mutation of gene for GS alpha protein for adenylate cyclase ( GNAS-1 ); also called polyostotic fibrous dysplasia, Albright-McCune-Sternberg syndrome, and McCune-Albright syndrome.

  • Apert d.: autosomal dominant disease caused by fibroblast growth factor receptor 2 disorder that results in early fusion of the skull (craniosynostosis) and fusion of the digits, multiple deformities, and mental retardation; also called acrocephalosyndactylism.

  • Assmann d.: avascular necrosis of the head of the first metatarsal.

  • Blount d.: lesion of the medial proximal tibial epiphysis causing valgus (lateral bowing) deformity of the tibia; also called osteochondrosis deformans tibia and tibia vara ( Fig. 2-5 ).

  • Boeck sarcoid: condition usually affecting small bones of hands and feet with granulomatous inflammatory reaction in lymph nodes, spleen, lungs, and liver.

  • Bouchard nodes: cartilaginous and bony enlargement of the proximal interphalangeal joints of fingers in degenerative joint disease.

  • Brailsford d.: avascular necrosis of the radial head seen in children.

  • Brodie abscess: chronic infection of bone resulting in a characteristic coin-sized sclerotic lesion with a lucent center.

  • Buchman d.: avascular necrosis of the medial cuneiform.

  • Burns d.: avascular necrosis of the humeral trochlea head seen in children.

  • Caffey d.: subperiosteal cortical added bone; infantile cortical hyperostosis; self-limited process of excess bone formation seen in newborns to 2-year-olds.

  • Camurati-Engelmann Disease (CED): a very rare autosomal dominant disorder, often involving the TGF β2 receptor. Bones are widened, possibly affecting the nerve passages and resulting in hearing and visual loss. Hearing loss may also be due to changes in the middle ear ossicles.

  • Crouzon d.: autosomal dominant disease caused by fibroblast growth factor receptor 2 disorder that results in early fusion of the skull (craniosynostosis) and facial deformities that vary widely in severity.

  • Engelmann d.: a rare autosomal dominant disorder often involving the TGF β2 receptor, leading to alteration of intramembranous ossification that usually affects the cortex of long bones and the skull with less frequent effects on the face. Bones are widened, possibly affecting the nerve passages and resulting in hearing and visual loss. Hearing loss may also be due to changes in the middle ear ossicles. Also called Camurati-Engelmann dysplasia.

  • Freiberg d.: aseptic (avascular) necrosis of the second metatarsal head.

  • Fröhlich adiposogenital dystrophy: slipped capital femoral epiphysis; also called Babinski-Fröhlich syndrome.

  • Gardner syndrome: multiple osteomas concurrent with intestinal polyps, fibromas, and epidermal cysts.

  • Gaucher d.: autosomal dominant bone disorder resulting from lipid storage disease that is due to an absence of glucocerebrosidase. Excessive production of histiocytes with interference of marrow function and destruction of bone occurs; also called cerebroside reticulocytosis.

    • Type 1: Adult—chronic, nonneuronopathic form associated with enlarged liver and spleen, bone lesions, no brain defect, skin pigmentation, and pingueculae.

    • Type 2: Infantile—acute neuronopathic form manifested in infancy; is associated with severe neuronal abnormalities and early demise resulting from severe liver and brain disorder.

    • Type 3: Juvenile—subacute neuronopathic form that has the features of the adult form but with neurologic symptoms that develop in the first decade of life with seizures; the liver and spleen are sometimes affected.

  • Gorham Stout d.: rare condition characterized by progressive osteolysis with loss of cortical bone, typically multifocal (regional) bone involvement can have soft tissue masses and effusions, functional impairment related to bone(s) involved, mortality related to pleural effusions; most commonly affects the pelvis, shoulder girdle, humerus, or skull. Proliferation of lymphatic tissue within bone is the hallmark.

  • Haas d.: avascular necrosis of the head of the humerus seen in children.

  • Hajdu-Cheney syndrome: rare syndrome of resorption (osteolysis) of bone of the distal part of the limbs (especially fingers and toes) with other skeletal anomalis such as skull deformities, distinctive facial features, abnormally loose joints, severe low bone mass and short statures. It is associated with a mutation in the NOTCH2.

  • Heberden nodes: cartilaginous and bony enlargement of the distal interphalangeal joints in osteoarthritis.

  • Iselins d.: apophysitis of the base of the fifth metatarsal.

  • Jaffe-Campanacci d.: osteoid osteoma; hereditary multiple exostosis. Also called Jaffe-Lichtenstein d.

  • Kappis d.: presumed avascular necrosis of the talus.

  • Kienböck d.: aseptic necrosis affecting lunate or ilium. Also called lunatomalacia.

  • Klippel-Feil syndrome: congenital fusion of two or more vertebrae in the neck often associated with an abnormally short neck, restricted motion of the neck, and a low posterior hairline. Frequently associated with dental, scapular, and other abnormalities.

  • Köhler d.: aseptic necrosis of tarsal navicular (scaphoiditis) or patella.

  • König d.: osteochondrosis dissecans of the knee; a separate formation of bone and cartilage segment at the joint surface.

  • Kümmell disease: avascular necrosis of the vertebral body usually following a trivial spinal trauma. Also called posttraumatic vertebral osteonecrosis; vertebral pseudarthrosis; intervertebral vacuum, cleft, or gas; delayed vertebral collapse; and nonunion of a vertebral compression fracture.

  • Lance d.: avascular necrosis of the cuboid.

  • Legg-Calvé-Perthes d.: aseptic epiphyseal ischemic necrosis of the capital femoral epiphysis in children; also called coxa plana, Perthes d., and Legg-Perthes d.

  • Letterer-Siwe d.: histiocyte tumor of bone, usually fatal in infants and small children; also called eosinophilic granuloma.

  • Lobstein d: osteogenesis imperfecta; Lobstein coined the term osteogenesis imperfecta in 1835. Also called Lobstein syndrome.

  • Marie-Bamberger d.: hypertrophied joints resulting from lung disease.

  • Mauclair d.: avascular necrosis of the metacarpal heads seen in children.

  • Mazabraud syndrome : A rare disorder, characterized by the presence of fibrous dysplasia (FD) associated with intramuscular myxomas. Most cases are due to a GNAS gene mutation.

  • Milkman syndrome: bone disease in which multiple transparent stripes are seen on radiograph.

  • nail-patella syndrome: autosomal dominant disorder caused by a mutation in the LMX1B gene characterized by hypoplastic patella, deformed fingernails, elbow deformities, and pelvic horns.

  • Niemann-Pick d.: rare progressive genetic disorder characterized by the inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells; marked by absence of sphingomyelinase. NPC is caused by mutations in the NPC1 gene (NPC type 1C) or the NPC2 gene (NPC type 2C) and is inherited in an autosomal recessive manner.

  • Ollier d.: skeletal disorder characterized by multiple noncancerous growths of cartilage that develop within the bones (enchondromas). These growths may lead to skeletal deformities, limb deformity, and fractures.

  • Osgood-Schlatter d.: osteochondritis affecting anterior tibial tuberosity.

  • Paget d.: disease of excess bone removal and replacement with deformity; seen in older people; also called osteitis deformans.

  • Panner d.: aseptic necrosis; osteochondritis dissecans of capitellum of humerus.

  • Perthes d.: aseptic necrosis of the hips in children; also called coxa plana, Legg-Calvé- Perthes d., and Legg-Perthes d.

  • Pott d.: osteomyelitis; tuberculosis of the spine.

  • Ribbing d: rare bone dysplasia associated with painful long bone central sclerosis after skeletal maturity; often resolves spontaneously.

  • Scheuermann d.: osteochondritis affecting anterior vertebral body apophysis.

  • shepherd’s crook deformity: characteristic deformity of proximal femur seen in fibrous dysplasia. The deformity has the appearance of a shepherd’s crook.

  • Silfverskiöld d.: avascular necrosis of the calcaneus.

  • Sinding-Larsen-Johansson d.: apophysitis of the inferior pole of patella.

  • Stewart-Morel syndrome: hyperostosis of frontal bone; also called Morel syndrome.

  • Thiemann d.: avascular necrosis of proximal ­phalanges.

  • Tietze syndrome: chronic inflammation of the costochondral junction of a rib or ribs, causing pain; also called chondropathia tuberosa.

  • turret exostosis, traction exostosis: dome-shaped extracortical mass on dorsum of middle or proximal phalanx of the hand caused by laceration of the deep extensor mechanism.

  • Van Buchem disease: a sclerosing bone dysplasia associated with at least six mutations in or near the SOST gene resulting in sclerosteosis. The more severe type and most common is seen in the Afrikaner population of South Africa with a milder form in people of Dutch ancestry.

  • Van Neck d.: nonspecific ischiopubic osteochondritis.

  • Volkmann deformity: congenital dislocation of the ankle caused by absent or defective fibula; not to be confused with Volkmann ischemic ­contracture.

  • von Recklinghausen d.: autosomal dominant disorder of nuclear factor neurofibromin (NF1) resulting in fatty tumors, peripheral nerve tumors, areas of skin pigment changes, and other disorders; also called neurofibromatosis.

  • Voorhoeve d.: osteopathia striata.

  • Wagner d.: avascular necrosis of the base of the first metatarsal.

  • Waldenström d.: osteochondrosis of distal humerus at the radial site of elbow (capitellum).

Muscle Diseases

Myo – (Gr. mys ) is a combining form denoting relationship to muscle. The myo – root diseases are followed by miscellaneous muscle diseases, the muscular dystrophies (listed together for comparison), and other muscle disorders. Eponymic terms are included.

Myo- Root Diseases

  • myasthenia: lack of muscle strength; also called amyosthenia.

  • myasthenia gravis: chronic autoimmune, neuromuscular disease that causes weakness in the skeletal muscles that worsens after periods of activity and improves after periods of rest; also called Erb-Goldflam d.

  • myatrophy: muscle wasting.

  • myobradia: sluggish muscle reaction to electric stimuli.

  • myocele: herniation and protrusion of muscle through its ruptured muscle sheath.

  • myocelialgia: pain in abdominal muscles.

  • myocelitis: inflammation of abdominal muscles.

  • myocellulitis: myositis with cellulitis.

  • myocerosis: waxy-appearing degeneration of muscle.

  • myoclonus: any disorder in which rapid rigidity and relaxation alternate; also called myoclonia.

  • myocoele: the cavity within a myotome.

  • myocytoma: benign muscle tumor.

  • myodegeneration: muscle degeneration.

  • myodiastasis: separation of muscle that may be congenital or traumatic.

  • myodynia: pain in the muscles; also called myalgia, myosalgia.

  • myodystonia: disorder of muscle tone.

  • myoedema: edema, muscle swelling following a direct blow or overuse.

  • myofascitis: inflammation of muscle and its fascia, particularly of fascial insertion of muscle into bone.

  • myofibrosis: replacement of muscle tissue by fibrous tissue.

  • myogelosis: area of hardening in a muscle.

  • myoglobinuria: protein myoglobin that appears in urine after vigorous activity; may lead to renal shutdown.

  • myohypertrophia: muscular hypertrophy.

  • myoischemia: local deficiency of blood supply in muscle.

  • myokerosis: waxy degeneration of muscle tissue; also called myocerosis.

  • myolipoma: fatty tumor of muscle.

  • myolysis: disintegration of degeneration of muscle tissue.

  • myoma: tumor made up of muscular elements.

  • myomalacia: pathogenic softening of muscle.

  • myomatosis: formation of multiple muscle tumors.

  • myomelanosis: black pigmentation of a portion of muscle.

  • myoneuralgia: muscular nerve pain.

  • myoneurasthenia: relaxed state of the muscular system in neurasthenia (lack of strength caused by muscle nerve supply loss).

  • myoneuroma: nerve tumor containing muscle tissue.

  • myopalmus: muscle twitching.

  • myoparalysis: paralysis of muscle; also called myoparesis.

  • myopathy: any disease of the muscles.

  • myophagism: atrophy or wasting away of muscle tissue, with removal of tissue by inflammatory cells, typically in a congenital form.

  • myopsychopathy: any muscular nerve affection associated with mental weakness or disorder.

  • myorrhexis: muscle rupture.

  • myosclerosis: irare, genetic, non-dystrophic myopathy with early progressive muscle and joint contractures myoseism: jerky, irregular muscle contractions.

  • myositis: inflammation of a voluntary muscle.

  • myositis ossificans: ossification of muscle in response to trauma. To distinguish the traumatic form of myositis ossificans from the generalized form, the terms myositis ossificans circumscripta and proliferative myositis are sometimes used.

  • myospasia: clonic contraction of muscle.

  • myospasm: muscle spasm.

  • myotenositis: inflammation of muscle and its tendon insertion.

  • myotonia: increased muscular irritability and contractility with decreased power of relaxation; tension and tonic spasm of muscle.

Miscellaneous Muscle Diseases and Conditions

  • amyoplasia congenita: disorder of fascia and muscle resulting in contracted joints during growth; a specific form of arthrogryposis.

  • amyotonia congenita: muscle disorder of the newborn, usually fatal; characterized by muscle degeneration with failure of muscle replacement (congenital hypotonia, Oppenheim d.); several types including Werdnig-Hoffmann d. (central nervous system origin), rod d. (microscopic rods forming within muscle cells), and central core d. , which is not fatal.

  • ataxia: defective muscular coordination (lack of order) when voluntary muscular movements are attempted. Many types (e.g., locomotor, autonomic, sensory, spinal).

  • central core d.: due to a mutation in The RYR1 gene for making ryanodine receptor 1, muscle weakness where most experience persistent, mild muscle weakness that does not worsen with time.

  • congenital myotonia: disorder found at birth, in which initiation and cessation of voluntary movement are delayed; also called Thomsen d.

  • delayed-onset muscle soreness (DOMS): muscle weakness, restricted range of motion, and tenderness on palpation that occurs 24 to 48 hours after intense or prolonged muscle activity.

  • Emery-Dreifuss muscular dystrophy: rare muscular disease with mixed patterns of inheritance affecting both skeletal and heart muscle. Contractures are common.

  • eosinophilia-myalgia syndrome: severe myalgia associated with elevated eosinophil count in blood in the absence of any infection. It has been believed to be associated with high doses of tryptophan.

  • familial periodic paralysis: disorder of muscle metabolism in which periods of partial to nearly complete paralysis occur; also called myotonia intermittens.

  • Kugelberg Welander syndrome: a milder type of inherited spinal muscular atrophy characterized by wasting and weakness in the muscles of the arms and legs and eventual loss of ambulation.

  • mitochondrial myopathy: slowly progressive muscular weakness associated with abnormal mitochondria, a cell structural component important in oxygen metabolism. The onset of symptoms is usually between birth and 10 years of age, but the disorder may not appear until adulthood.

  • monoplegia: in cerebral palsy an isolated paralysis of one limb.

  • muscle atrophy: general loss of muscle from various causes; also called muscle wasting.

  • muscle contracture: condition of fixed high resistance to passive stretch of a muscle resulting from fibrosis of the tissues supporting the muscles or the joints, or from disorders of the muscle fibers such as trauma or a congenital disorder.

    • ischemic c.: contracture and degeneration of muscle caused by interference with circulation from pressure, as by a tight bandage or from injury or cold.

    • organic c.: contracture that is permanent and continuous.

    • postpoliomyelitic c.: any distortion of joint motion following an earlier attack of poliomyelitis.

  • muscle cramps: uncontrolled contraction of muscle; one common example is a charley horse, the cause of which is often unknown.

  • muscle guarding: involuntary contraction of muscle in effort to avoid pain that would be produced by moving the body part.

  • muscle ischemia: decreased blood supply to a muscle; can be spontaneously reversible; if not, ischemic contracture may develop.

  • muscle spasm: sudden contraction of muscle, usually in reflexive response to stimulus from external source, for example, back spasm caused by a herniated disk.

  • muscular dystrophy: group of degenerative disorders of muscle resulting in atrophy and weakness; also called Erb d.

    • distal dystrophy muscular dystrophy: dystrophy affecting mostly the distal muscles of the extremities and usually slowly progressive proximally.

    • dystrophinopathy muscular dystrophy: autosomal recessive form of muscular dystrophy resulting from failure of formation of dystrophin, resulting in a severe form; also called Duchenne muscular dystrophy, or a less severe form, Becker muscular dystrophy.

    • pseudohypertrophic muscular dystrophy: dystrophy of shoulder girdle and sometimes pelvic girdle muscles, beginning with hypertrophy in childhood, followed by atrophy; also called Erb paralysis.

    • fascioscapulohumeral muscular dystrophy: marked atrophy of face, shoulder girdle, and arm muscles with autosomal dominant inheritance; also called Landouzy-Déjérine disease.

    • limb girdle muscular dystrophy: slow, progressive dystrophy, affecting mostly the back and pelvic muscles. There are a number of types, including type I: autosomal dominant; type IIA: autosomal recessive with lack of calcium-activated neutral protease-3 (calpain-3); type IIB: autosomal recessive; type IIC and D: autosomal recessive lack of gamma-sarcoglycan; and type IIE: autosomal with lack of beta-sarcoglycan.

    • myotonic muscular dystrophy: myotonia followed eventually by atrophy of face and neck muscles, ultimately extending to muscles of trunk and extremities caused by autosomal dominant lack of myotonin-protein kinase. Also called Steinert disease .

    • ocular muscular dystrophy: dystrophy usually confined to the levator and other facial muscles; also called progressive dystrophic ophthalmoplegia.

  • nemaline myopathy due to a number of gene mutations, muscle weakness and poor tone in the muscles of the face, neck and upper limbs. Often affects the respiratory muscles.

  • Poland syndrome: a rare birth defect with absence of the chest muscle on one side and usually webbing of the fingers on the same side.

  • pyomyositis: infection of muscle in which an abscess forms.

  • rhabdomyolysis: destruction of muscle following excessive activity, crush, or compartment syndrome. It can cause renal failure caused by high levels of myoglobulin in blood.

  • Stewart-Morel syndrome: intermittent progressive muscular rigidity; stiff man syndrome.

  • trigger points: this term has several different meanings. In general, these are specific points of muscle or muscle attachment that are very tender and related to muscle spasm. Pressure on these points may cause pain referred distal to those points. These point areas may be the result of chronic spinal disorders or caused by overuse of specific muscle groups.

Cartilage Diseases

Chondro – (Gr. chondros , gristle or cartilage) refers to cartilage, which serves a very important function in the growing process and joint motion. Healthy cartilage is essential for normal growth.

A growth plate called the epiphysis, a cartilage layer near or outside the joint, is essential to most of the longitudinal growth of bone during childhood. Disorders of this structure can lead to dwarfism or deformity. Cartilage is not apparent on radiographs, and many cartilage diseases are not detected until sufficient degeneration to cause joint narrowing takes place. However, in many instances magnetic resonance imaging will detect changes. Often a disorder that affects cartilage affects bone as well, such as osteo -/- chondr -/- itis (inflammation of bone and cartilage) or osteo -/- chondr- /- oma (bone and cartilage tumor).

Because diseased cartilage cells affect the combined function of bones and joints, many cartilage disease terms are found in the sections on bone tumors and joint diseases. The cartilage-related diseases are categorized in this section as follows:

  • 1.

    Chondro – root diseases

  • 2.

    Miscellaneous cartilage diseases

  • 3.

    Abnormalities of the epiphyses

  • 4.

    Mucopolysaccharidoses (proteoglycan abnor­malities)

Chondro- Root Diseases

  • chondralgia: pain in cartilage; also called chondrodynia.

  • chondritis: although the term implies inflammation of cartilage, it alludes to pain from a cartilage bone interface such as ribs, costochondritis, where inflammation may not be present.

  • chondrodysplasia: hereditary deforming abnormal cartilage formation; also called dyschondroplasia.

  • chondrodysplasia punctata: a clinically and genetically diverse group of rare diseases, that share the feature of stippled epiphyses and variable skeletal changes.

  • chondrodystrophia: rare condition of nutritional abnormality of cartilage development.

  • chondroepiphysitis: inflammation of epiphyseal cartilage.

  • chondrofibroma: fibroma with cartilaginous elements.

  • chondrolipoangioma: a well-circumscribed tumor in which there is a predominance of mature cartilage, mature blood vessels, and mature fat.

  • chondrolipoma: fatty tumor containing cartilaginous elements.

  • chondrolysis: degeneration of cartilage cells, ending in cell death.

  • chondromalacia: softening of cartilage, as of the patella.

  • chondromatosis: multiple formation of chondromas.

  • chondrometaplasia: condition in which cells that would normally form cartilage function abnormally.

  • chondromyoma: muscle tumor with cartilaginous elements.

  • chondromyxoma: mucous tumor of bone with cartilaginous elements.

  • chondronecrosis: necrosis (death) of cartilage.

  • chondroosteodystrophy: nutritional abnormality of bone and cartilage.

  • chondropathology: diseased state of cartilage.

  • chondropathy: disease of cartilage.

  • chondrophyte: excess cartilaginous growth at bone ends, at the margins of a joint.

  • chondrosarcomatosis: multiple chondrosarcomas; abnormal tumor cartilage.

  • chondrosteoma: tumor made up of bone and cartilaginous tissue.

  • relapsing polychondritis: a rare conduction of painful episodes of destructive inflammation of cartilage and other connective tissues. The cartilage of the ears or nose may be involved.

Miscellaneous Cartilage Diseases

  • achondroplasia: autosomal dominant disorder caused by a mutation in the fibroblast growth factor-3 ( FGFR3 ) gene, resulting in congenital dwarfism associated with deformed long bones and misshapen epiphyses; also called achondroplastic dwarfism and chondrodystrophia fetalis.

  • cartilage-hair hypoplasia: autosomal recessive mutation in RMRP , a non-encoding RNA resulting in short stature and abnormal facial appearance; also called McKusick-type metaphyseal chondrodysplasia.

  • diastrophic dwarfism: autosomal recessive dwarfism often characterized by short stature and unusually short arms and legs with flattening subluxation of various epiphyses caused by defect in sulfate transporter; also called diastrophic dysplasia.

  • Henderson-Jones chondromatosis: synovial formation of multiple loose pieces of cartilage within a joint, often associated with pain and swelling. The condition can spontaneously resolve with absorption of the cartilage bodies.

  • hypochondrodysplasia: autosomal dominant condition caused by mutation of fibroblast growth factor-3, resulting in milder dwarfing than achondroplasia and normal facial appearance.

  • Jansen d.: autosomal dominant disease of parathyroid hormone-related peptide receptor associated with mental retardation, short-limb dwarfism, exophthalmia, hypercalcemia, and long bone bowing; also called metaphyseal chondrodysplasia.

  • Maffucci syndrome: dyschondroplasia with hemangiomas, some of which have calcified walls as seen on radiographs.

  • Ollier d.: skeletal disorder characterized by multiple noncancerous growths of cartilage that develop within the bones (enchondromas). These growths may lead to skeletal deformities, limb deformity, and fractures.

  • precocious osteoarthritis: degenerative arthritis that develops at a very young age, often a genetic defect such as type II collagen.

  • Schmid d.: autosomal disorder affecting type X collagen and characterized by short stature, bowed lower extremities, coxa vara, flared metaphyses, and a waddling gait; also called metaphyseal chondrodysplasia and Schmid type.

  • Stickler syndrome: autosomal dominant disorder of type II collagen associated with small lower jaw, nearsightedness, thin limbs, mild scoliosis, and early degenerative arthritis. In another form, type XI collagen is affected and there is no eye disorder.

  • synchondrosis: joint formed by union of two bones with hyaline or fibro cartilage (e.g., skull sutures). Often converted to bone at skeletal maturity. This may be a disease state or a normal maturation process, depending on the location.

  • synoviochondromatosis: process in which the joint lining forms small nodules of cartilage, which may break loose and be free in the joint. Also called synovial osteochondromatosis, osteochondromatosis.

Abnormalities of the Epiphyses

(Fig. 2-6)

The epiphyses are the cartilaginous layers at the end of long bones at the joints responsible for growth. Any dysfunction of metabolic origin or injury can cause deformity or dwarfism such as the following.

  • dysplasia epiphysealis hemimelia: characterized by asymmetrical limb deformity caused by localized osteocartilagenous overgrowth arising from the epiphysis and projecting from the articular surface. This usually interferes with joint function; histologically resembles osteochondroma ; Also called Trevor disease.

  • epiphyseal hyperplasia: condition in which the epiphyses form from multiple centers and become enlarged and misshapen.

  • epiphysiodesis: premature fusion of the epiphysis to diaphysis. This can be due to injury or surgical intent.

  • epiphysiolysis: separation of an epiphysis from the shaft of the bone.

  • epiphysiopathy: any disease of the epiphyses.

  • epiphysitis: inflammation of joint cartilage or epiphyses in contrast to the rest of the bone.

  • hatchet head shoulder: flattening of humerus seen in multiple epiphyseal dysplasia. Not to be confused with hatchet head deformity seen after an anterior shoulder dislocation.

  • multiple epiphyseal dysplasia: multiple irregular epiphyseal ossification centers causing enlargement and flaring. Type I multiple epiphyseal dysplasia is due to an autosomal dominant disorder affecting oligomeric protein of cartilage (cartilage oligomeric matrix protein [COMP]), and type II–IV multiple epiphyseal dysplasia is due to an autosomal dominant disorder affecting type IX collagen (A1, A2, and A3). Type V is caused by autosomal dominant disorder of matrilin 3. There are additional dominant and recessive forms. Also called dysplasia epiphyseal multiplex congenita.

  • physeal bar: usually caused by a fracture bridging the growth plate; bone replaces the growth plate cartilage, typically resulting in bone growth abnormalities.

  • slipped epiphysis: subluxation or dislocation of the epiphysis from the shaft of the bone. This may not necessarily be a single traumatic event, but may occur gradually.

  • spondyloepiphyseal dysplasia: autosomal dominant and recessive disorders of type II collagen causing a spectrum of changes including inability to ossify normal epiphyseal centers, resulting in dwarfing or precocious osteoarthritis, primarily in spine and hips. There are four forms: spondyloepiphyseal dysplasia congenita (autosomal dominant); spondyloepiphyseal dysplasia tarda (autosomal recessive); dominant X-linked resulting from a defect in sedlin; and Kniest dysplasia (autosomal dominant).

  • spondyloepiphyseal dysplasia of Maroteaux: disorder of development of vertebrae and hips but without associated biochemical and eye changes seen in Morquio syndrome.

  • stippled epiphysis: radiologic sign of chondrodystrophia calcificans, a disease associated with multiple calcifications of epiphyseal cartilage. A mild form of the condition may be called epiphyseal dysplasia.

  • Trevor disease: a rare, nonhereditary hemimelic developmental disorder of the epiphysis or other ossification center characterized by osteocartilagenous overgrowth affecting only one side, usually the medial side. Also called dysplasia epiphysealis hemimelica.

Mucopolysaccharidoses (Metabolic Effects)

The mucopolysaccharidoses (MPSs) are a variety of hereditable metabolic disorders of mucopolysaccharides presently called proteoglycans. Glycosaminoglycan chains are sugars that contain amino and sulfate components, are attached to a protein core molecule, and are formed by posttranslational pathways in the cell. Specific enzymatic failures are responsible for the accumulation of specific chemicals. Muco – originally signified the gelatinous appearance of the pure aggregate of these molecules. Most disorders of mucopolysaccharide metabolism are autosomal recessive. For many types, the eponymic designations are preferred because the metabolic nomenclature is complex. The term syndrome is used more often than disease.

  • Hunter s.: similar to Hurler syndrome, but less severely deforming; sex-linked dominant inheritance affecting sulfoiduronate sulfatase, MPS II . There are severe and mild forms of the disease.

  • Hunter-Scheie s.: condition that has mixed clinical appearance of Hunter and Scheie s.; also called MPS I H/S.

  • Hurler s.: autosomal recessive severely deforming condition associated with blindness, mental retardation, and early death; caused by a deficiency of alpha-L-iduronidase ; MPS I H. Formerly called gargoylism and lipochondrodystrophy.

  • Maroteaux-Lamy s.: growth retardation, lumbar kyphosis, sternal protrusion; no mental retardation; also called MPS VI.

  • McArdle s: autosomal recessive disorder caused by deficiency of muscle glycogen phosphorylase leading to muscle weakness, cramps, and muscle pain on exercise.

  • Morquio s.: dwarfing disease with multiple skeletal abnormalities including a bell-shaped chest, curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists; little or no mental retardation. There are two forms that have similar clinical appearance— MPS IV A and MPS IV B; chondroosteodystrophy. Both types are autosomal recessive inherited disorders caused by defects in galaxtosamine-6-sulphate sulfatase and a defect in beta-galactosidase.

  • Sanfilippo s.: four forms of this autosomal recessive disease resulting in accumulation of heparan sulfate exist and all have profound mental retardation, hyperactivity, and relatively mild somatic manifestations— MPS III A, MPS III B, MPS III C, and MPS III D.

  • Scheie s.: autosomal recessive disorder resulting from dysfunction of alpha-1-iduronidase with no mental impairment but noted corneal clouding, aortic disease, and stiff joints; also called MPS I S.

  • Sly s.: autosomal recessive disorder of glucuronidase, which causes multiple long bone growth abnormalities associated with liver and spleen enlargement; wide spectrum of severity; also called MPS VII.

Diseases of (Specific) Soft Tissue

In addition to bone, muscle, and cartilage, other tissues surround a joint. The root terms for these tissues ( fibro-, lipo-, myxo-, muco- ) denote the relationship to certain disease processes and disorders.

Fibro- Root Diseases

Fibro – (L. fibra , fiber) is a combining form indicating fibrous tissue such as tendons and ligaments. Such tissue contains collagen, which is the major supportive protein of bone, tendon, cartilage, and connective tissue. Fibrous-like tissues and structures can arise in a number of places.

  • fibrosis: proliferation of fibrous tissue as a result of reaction to a reparative process.

  • fibrositis: inflammation of fibrous tissue.

  • fibrous histiocytoma: benign tumor of bone containing fibrous stroma, xanthomatous cells, and a round and spindle cell component. There is a malignant form called malignant fibrous histiocytoma.

  • Garrod fibromatosis (Garrod pads): thickening of the skin almost always confined to the dorsal aspects of the proximal interphalangeal joints of the hand.

  • juvenile hyaline fibromatosis: disease that develops in early childhood and is characterized by multiple fibromatous lesions of the skin, muscle, bone, and ligaments, possibly leading to joint contractures. It is not necessarily progressive; histologically, it is characterized by multiple spindle cells with an amorphous matrix or collagenous tissue.

  • monostotic fibrous dysplasia: Fibrous dysplasia occurring in only one bone. This is the most common type.

  • polyostotic fibrous dysplasia: disease caused by a defect in GS alpha protein of adenylate cyclase ( GNAS-1 ) marked by fibrous tissue replacement of bone with resultant deformities. May occur as part of a larger disorder: McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia that occurs with hormonal abnormalities (particularly precocious puberty) and areas of darkened skin (“café au lait” spots); also called Albright syndrome.

  • neurofibroma: abnormal proliferation of nerve sheath cells; also called Schwann tumor.

  • periarticular fibrositis: inflammatory condition of fibrous tissue surrounding a joint.

  • periosteal fibroma: fibrous tumor of bone-covering tissue.

  • pseudosarcomatous fibromatosis: disease of extensive subcutaneous fibroma formation; also called subcutaneous pseudosarcomatous fibromatosis, proliferative fasciitis.

Lipo- Root Diseases

Lipo – (Gr. lipos , fat) is a combining form denoting relationship to fat and fatty tissue. Several disease processes are based on this root.

  • lipochondrodystrophy: lipodystrophy as it affects cartilage.

  • lipodystrophy: defective metabolism of fat that results in the absence of subcutaneous fat, either partial or total. May be congenital or acquired.

Myxo- Root Diseases

Myxo – (Gr. myxa , mucus) is a combining form denoting relationship to mucus. Myxomatous cells contain mucous material that is clear in appearance. These cells are naturally found in the intervertebral disks, but when seen elsewhere they usually represent an abnormality. Myxomatous cells contain the mucopolysaccharide (proteoglycan) material, which could rupture, causing mucous cysts to form. Terms containing myxo – indicate the presence of this type of cell and are found in the “Soft Tissue Tumor” section earlier in this chapter.

Muco- Root Diseases

The Latin word mucus, for the purposes of orthopaedics, does not imply secretions but rather the association of tissues that contain certain chemicals called mucopolysaccharides, which, when sufficient collection of material occurs, are in the form of a clear jelly and seen in certain cysts. Elsewhere in medicine, the terms mucus and mucous relate particularly to the gut and respiratory tract.

  • ganglion cyst: a sac, usually 1 mm to more than 5 cm in size, commonly near a joint; contains a mix of collagen, proteoglycans, and other proteins with water such that the content appears clear and gelatinous. Ganglion cysts may occur anywhere, including within bone (intraosseous ganglion) and just under the periosteum (periosteal ganglion).

  • mucopolysaccharidosis: any of a variety of heritable disease states resulting from abnormalities in mucopolysaccharide (sugars containing SO4, COOH, and NH2) metabolism. These mainly affect cartilage in terms of orthopaedic diseases and cause stunted growth.

  • mucous cyst: in orthopaedics, a benign cyst under the fingernail.

Ligament, Tendon, Bursa, and Fascia Diseases

Desmo- Root Diseases

Desmo – (Gr. desmos , ligament) is a combining form denoting relationship to a band, bond, or ligament. Ligaments are composed of fibrous tissue that binds the joints together. Desmogenous dysfunctions and diseases may be any of the following.

  • desmitis: inflammation of a ligament.

  • desmocytoma: now called fibrosarcoma.

  • desmodynia: pain in a ligament; also called desmalgia.

  • desmoid: collection of fibrous tissue occurring at the insertion of a tendon (cortical desmoid) or arising from soft tissue of an extremity. The latter is a true tumor, recurrent but not malignant; also called periosteal desmoid and extraabdominal desmoid.

  • desmoma: a fibroma; a benign fibrous tumor.

  • desmopathy: any pathologic disease of a ligament.

  • desmoplasia: formation and development of fibrous tissue.

  • desmoplastic: producing or forming adhesions.

  • desmorrhexis: rupture of a ligament.

Eponymic Ligamentous Diseases

  • Duplay d.: capsulitis of the glenohumeral joint area; also called frozen shoulder.

  • MGHL cord: pattern in which the m iddle g leno- h umeral l igament is cordlike and enlarged.

  • Pellegrini-Stieda d.: ligamentous calcification of the medial collateral ligament of the knee following trauma.

Tendo-/Teno- Root Diseases

Tendo – and teno – (L. tendo ; Gr. tenoˉn ) are combining forms denoting relationship to a tendon. A tendon is a fibrous cord of connective tissue in which the fibers of a muscle end and by which the muscle is attached to bone.

  • tendinopathy: breakdown of tendon structure. Also called tendinosis .

  • tendonitis: although this term implies an inflammation of tendons or of tendon-muscle attachments, it is now clear that many tendons that have focal swelling and soreness do not have evidence of the increased blood supply seen with inflammation. The biologic effects to the tendon that creates the symptoms in these cases has no apparent effect on the blood supply; also called tenontitis, tenonitis, and tenositis.

    • bicipital t.: inflammation of a biceps muscle at tendon insertion of shoulder.

    • calcific t.: inflammation associated with calcium deposits in the tendon or bursa (i.e., subacromial or subdeltoid bursa) producing pain and tenderness and limiting motion of shoulder.

    • tendonitis ossificans traumatica: development of ossification in areas of tendons caused by trauma.

  • tenodynia: pain in a tendon; tenontodynia.

  • tenoperiostitis: inflammation of muscle-tendon attachment to bone, for example, tennis elbow and golfer’s elbow.

  • tenophyte: growth or concretion in tendon.

  • tenositis: inflammation of a tendon.

  • tenostosis: ossification of a tendon.

  • tenosynovitis: inflammation of a tendon sheath and synovial sac; tendosynovitis.

Other Tendon-Related Diseases

  • acute calcific tendonitis: rapid onset of pain and occasionally fever associated with swelling and redness. Most commonly confused with infection. Radiographs reveal subtle soft tissue calcification. Seen most commonly in the hands and wrist but may be seen in the shoulder, elbow, hip, or knee. It is rarely seen in the small, deep anterior neck muscles. This condition may be called acute calcific retropharyngeal tendonitis, and is important to orthopaedics because it is a rare but benign cause of severe neck pain.

  • Albert achillodynia: discomfort felt around terminal segment of heel cord; also called achillodynia, achillobursitis.

  • de Quervain d.: tenosynovitis of the abductor pollicis longus and extensor pollicis brevis of the hand.

  • enthesopathy: degenerative disorders of ligaments, muscles, and tendon attachments to bone, the central structure in the disease process. Enthesis is the site of a tendon, ligament, or muscle attachment to bone. However, the term is more specifically applied to certain degenerative disorders of tendons such as supraspinatus and Achilles tendonitis. Because a neighboring bursa may be involved, it is sometimes called a bursitis.

  • enthesitis: inflammation resulting from stress on muscle or tendon that is attached to bone. There is a strong tendency toward fibrosis, calcification, and even rupture.

  • epicondylitis: inflammation of the tendon origins on the medial epicondyle (golfer’s elbow, thrower’s elbow) or the lateral epicondyle (tennis elbow).

Bursa-Related Diseases

Bursae (pl.) are closed sacs of fibrous tissue lined with synovial membrane, filled with viscid fluid, and situated in places in tissue where friction would otherwise inhibit function, such as near joints. Most disorders of bursae are part of another disease process.

  • bursitis: inflammation of a bursa at site of bony prominences between muscles or tendons.

    • calcific bursitis: deposition of calcium in a bursa, usually associated with inflammation; can often be seen on a radiograph.

  • bursolith: calculus or concretion in a bursa.

  • bursopathy: any pathologic condition of bursae.

Fascia-Related Diseases

Fasciae (L. fascia, band) are bands of fibrous tissue that lie deep to the skin and form an investment for muscles and various organs of the body. Retinacula ( retinaculum, sing.) are also thickened bands that bind muscles and tendons of distal portion of limbs into position. Several processes are disease related.

  • Dupuytren contracture: thickening and shortening of the palmar fascia of the hand resulting in flexion contractures of the fingers.

  • fasciitis: inflammation of fascia. Usually an anatomic structure is named when describing the location of the fasciitis, for example, plantar fasciitis, inflammation of the fascia of the sole of the foot.

  • necrotizing fasciitis: severe, life-threatening bacterial infection of the soft tissues that spreads rapidly along fascial planes. Most commonly caused by group A Streptococcus, but may be caused by other bacteria as well.

  • nodular fasciitis: fasciitis resulting in the formation of nodules.

Joint Diseases (Arthro-, Synovio-, Capsulo-, Ankylo-)

The joint ( arthro -) has a smooth inner lining or fluid sac (synovium) and a strong fibrous outer connective tissue enclosure ( capsulo -). Affections of the joint cartilage, synovium, and capsule may result in transient or permanent functional changes. When motion is severely or completely lost, ankylosis (an abnormal fusion of a joint) is the result. The terms in this section relate to loss of joint function or a change in appearance of the joint. Joint function depends on its surrounding tissue. Diseases or dysfunctions affecting the joint spaces are presented here.

Arthro- Root Diseases

Arthro – (Gr. Arthron, joint) is a combining form denoting relationship to a joint, the junction where two bones meet and articulate with one another. Articulatio (Latin) is a general term for joint. The arthro – root diseases are as follows.

  • arthralgia: pain in a joint; arthrodynia.

  • arthrempyesis: infection in a joint; arthroempyesis.

  • arthritis: pathologic inflammation of a joint; may be crippling; can become a degenerative joint disease. Various types are osteoarthritis, gouty a., rheumatoid a., septic a., traumatic a., infectious a., allergenic a., and hemophilic a.

  • arthrocele: swollen joint.

  • arthrochalasis: abnormal relaxation or flaccidity of a joint as seen in Ehlers-Danlos syndrome type 7A.

  • arthrochondritis: inflammation of the cartilages of a joint.

  • arthrodysplasia: deformity of various joints; hereditary condition.

  • arthrogryposis: resulting from a variety of sex-linked recessive and autosomal recessive disorders that lead to decreased fetal movement and subsequent soft tissue contractures affecting two or more joints.

  • arthrokatadysis: limitation of motion of the hip resulting from protrusio acetabuli (deep-shelled acetabulum).

  • arthrolith: deposit of calculus in a joint.

  • arthromeningitis: synovitis; inflammation of the membranous lining of a joint.

  • arthropathy: any joint disease.

  • arthrophyte: abnormal growth in a joint cavity.

  • arthropyosis: suppuration, or formation of pus, in a joint cavity.

  • arthrosis: disease or abnormal condition of a joint.

  • arthrosteitis: inflammation of any bony joint structure.

Other Joint Diseases and Conditions

  • constriction ring syndrome (Streeter bands): congenital constriction bands with an unknown cause in which intrauterine bands or rings create deep grooves in distal limbs, particularly fingers and toes. Also called Amniotic Band Syndrome.

  • cystic arthrosis: development of large cysts just under the bony surface of a joint. It is not clear whether this is due to cystic degeneration within the bone that leaves the articular cartilage intact or to synovial invasion from the joint. Condition progresses to degenerative arthritis. This condition is probably separate from ganglions that form within the bone and are not associated with arthritic progression.

  • diffuse idiopathic sclerosing hyperostosis (DISH): excess bone formation at the margins of large joints, particularly the lumbar spine and hips.

  • flail joint: complete loss of ligamentous stability.

  • frozen shoulder: severe loss of motion in the shoulder joint resulting from inflammation of the capsule.

  • Harrison sulcus (Harrison groove): a horizontal groove along the lower border of the chest at the rib insertion of the diaphragm. May be caused by chronic respiratory disease or rickets due to defective bone mineralization and pull by the diaphragm.

  • hemarthrosis: extravasation of blood into a joint or synovial cavity.

  • hydrarthrosis: accumulation of watery fluid in the joint cavity.

  • hypertrophic arthritis: increased bone formation around the joint, as seen on radiographs; osteoarthritis.

  • internal derangement of joint: commonly named internal knee injuries, particularly when the precise nature of the injury is unknown.

  • joint mice: loose pieces of cartilage or other organic material in the joint.

  • pannus: growth of blood vessels onto margin of articular cartilage surface.

  • pauciarticular: involving a few joints as opposed to many joints.

  • polyarthritis: inflammation of many joints.

  • pseudoarthrosis: false joints that result from nonunion of a fracture or from a pathologic bone condition.

  • pustulotic osteoarthropathy: pain, swelling, and radiographic findings of hypertrophy and sclerotic changes involving the sternum, ribs, and clavicle associated with the skin condition pustulosis palmaris et plantaris. The sacrum, spine, and peripheral joints may also show radiographic changes. The cause is unknown.

  • rice bodies: small, glistening, soft, loose bodies either in joints or bursae; loose fibrocartilage tissue.

  • sporotrichosis (Rose gardener’s disease): fungal disease of skin in which joint disorders can occur.

  • suppurative arthritis: bacterial infection causing pain, swelling, tenderness, redness, and effusion; pyarthrosis.

  • synarthrosis: ankylosis and contracture; usually caused by arthritic joint disease.

  • villous lipomatous proliferation: rare disorder of synovial joint lining in which there is fatty proliferation with the formation of numerous villous formations. The term lipoma arborescens was applied to this condition. Because it is not a neoplasm, the term villous lipomatous proliferation is preferred.

Eponymic Joint Diseases

  • Behçet syndrome: disease of undetermined cause that may produce joint complaints predominantly in young people in the third decade of life. Marked by oral and genital ulcerations and eye and skin lesions. Often arthritis, thrombophlebitis, gastrointestinal lesions, and central nervous system lesions also occur.

  • Kawasaki d.: mucocutaneous lymph node syndrome in children characterized by fever, exanthematous skin disease, and sometimes arthritis (30%–40%).

  • Lyme d.: inflammatory arthritis involving usually a few joints, particularly the knees, caused by an organism that is transmitted by the black-legged or deer tick.

  • Reiter syndrome: arthritis of various joints, usually associated with one or more of the triad of urethral drip, conjunctivitis, and oral mucosal lesions.

Synovio-Related Diseases

Synovial fluid, or synovia, is an alkaline viscid transparent fluid resembling egg white that is found in joint cavities, tendon sheaths, and bursae, and is responsible for lubrication and nourishment of these joint structures. Synovial membrane is the inner lining of a joint, which is a two-layer membrane on a bed of fat composed of certain cells that produce synovial fluid; other cells act as phagocytes. Related disease processes are the following.

  • synovial cyst: accumulation of fluid in any bursa forming a firm cystic structure. The fluid often becomes gelatinous as seen in a ganglion. The contents and structures of these cysts are often indistinguishable from a ganglion. Some can communicate with a joint or tendon sheath.

    • popliteal cyst: seen behind the knee, this cyst usually involves the gastrocnemius-semimembranosus bursa.

    • antefemoral cyst: located in the suprapatellar area.

    • anteromedial cyst: found in association with the pes anserinus bursa below the anteromedial joint line.

    • tibiofibular cyst: associated with the tibiofibular joint, which in 10% of people communicates with the knee.

  • synovial osteochondromatosis: formation by the synovium of cartilage bodies, which develop into bone.

  • synoviochondromatosis: synovial formation of cartilage bodies.

  • synovitis: inflammation of synovial membrane, which may be associated with swelling.

Miscellaneous Synovial Diseases

  • pigmented villonodular synovitis: inflammation of synovium with production of pigment, giant cells, and other characteristic cell types.

  • villous synovitis: inflammation of joint lining, resulting in long fronds of synovium.

Capsulo-Related Diseases

The capsule is the thick, fibrous tissue enclosing the cavity of the synovial joint and defines the limits of the joint; it may be referred to as joint capsule or synovial capsule. There are two related dysfunctions.

  • adhesive capsulitis: adhesive inflammation between joint capsule and the peripheral articular cartilage of the shoulder, obscuring the subdeltoid bursa. It produces a painful shoulder, stiffness, and may result in limited joint motion; also called frozen shoulder and adhesive bursitis.

  • capsulitis: inflammation of the capsule.

Ankylo- Root Diseases

The combining form ankylo – means “bent” or “deformed.” It was originally used to describe untreated deforming loss of joint function. Now such terms apply to joints fused congenitally or those that are aligned normally because of a surgical process. Therefore the implication of ankylo – is not necessarily “bent” or “deformed,” but rather “complete fusion” or “restricted motion” of a joint.

  • ankylodactylia: adhesions of fingers or toes to one another.

  • ankylosis: consolidation and abnormal immobility of a joint caused by fibrous or bone tissue bridging the joint space.

    • bony a.: abnormal union of bones at joint site; also called true ankylosis.

    • extracapsular a.: caused by rigidity of structure exterior to joint capsule, usually a surgically implanted piece of bone.

    • false a.: results from other causes not related to the abnormal union of bones composing the joint.

    • fibrous a.: caused by formation of fibrous bands within the joint.

    • intracapsular a.: caused by undue rigidity of structure within the joint capsule.

    • ligamentous a.: results from rigidity of ligaments.

    • spurious a.: false ankylosis.

Vascular Diseases and Conditions

Blood Vessels

All tissues of the body are supplied with nutrients and oxygen by blood vessels. These vessels are subject to an assortment of disease processes. The larger named arteries are sometimes impaired by arteriosclerosis or trauma, whereas the larger named veins may be impaired by trauma or thrombosis, and the smaller unnamed vessels (on either side of the circulation) can be injured by arteriosclerosis, trauma, or systemic degenerative disorders (e.g., collagen vascular diseases). In addition to these, the heart itself can be afflicted by diseases of the arteries that feed the heart muscle, causing deterioration of the muscle (cardiomyopathy).

Trauma and arteriosclerosis (hardening of the arteries) are the two most frequent arterial conditions that are seen by the orthopaedic surgeon. However, the orthopaedist often sees a host of other vascular disorders or symptoms that influence the treatment of a musculoskeletal problem. Often, patients with these specific disease entities are referred to the peripheral vascular surgeon, and a combined effort is made to restore function. The venous and arterial disorders, collagen vascular disorders, and blood vessel tumors are considered here.

Venous Disorders

  • deep venous thrombosis (DVT): blood clots in the deep venous circulation usually of the lower extremity, in the calf, thigh, or pelvis. Portions of these clots may break off and lodge in the lungs, causing pulmonary emboli. These clots in the veins eventually destroy the valves of the veins and can cause chronic problems related to venous insufficiency.

  • phlebitis: inflammation of a vein; may be a result of infection, inflammation, or trauma, and is usually associated with thrombus in that vein (thrombophlebitis).

  • phlebothrombosis: clot in a vein; phlebitis with secondary thrombosis.

  • postphlebitic syndrome: chronic venous insufficiency of lower limbs resulting from deep venous thrombosis. Develops with loss of function of valves in veins, allowing blood to pool and cause swelling, pain, leg ulceration, and varicose veins. Also the result of scar-thickened deep veins.

  • pulmonary embolism (PE): acute obstruction to circulation in lungs as a result of a clot that has migrated from the pelvic or leg veins and lodged in the lung. A life-threatening problem requiring anticoagulant, thrombolytic therapy, and sometimes surgery.

  • thrombophlebitis: inflammation of a vein associated with thrombosis (blood clots) usually in the lower limbs. The clot can also become infected, becoming septic thrombophlebitis.

  • thrombosis: formation of a clot (thrombus) within a blood vessel that results in occlusion or stenosis of the vessel, which may cause infarction of tissue supplied by that vessel.

  • varices ( sing. -ix): enlarged and tortuous (twisted) veins or lymphatic vessels, usually of the lower limbs.

  • varicose veins: a degenerative condition of veins whereby the muscle fibers in the walls of the vessel become stretched out and baggy, losing elasticity. The valves become incompetent and blood falls back the wrong way creating a reflux and further wall failure. Return flow becomes inefficient, producing pain, tenderness, and swelling.

  • venous insufficiency (reflux): malfunction of venous valves that allow blood to flow in a retrograde (backward) direction; also called postphlebitic syndrome.

Arterial Disorders

  • aneurysm: thin-walled, dilated segment of a vessel wall that may be caused by degeneration from arteriosclerosis, congenital abnormality, or trauma. Complications of aneurysms include rupture, thrombosis, or break-off of a blood clot that has collected in the aneurysm.

  • arterial insufficiency: inadequate blood flow to an organ or extremity often caused by arteriosclerotic narrowing or occlusion of the blood vessel restricting blood flow. In severe cases, necrosis and gangrene may develop, requiring amputation of a limb.

  • arterial occlusive disease: hardening of the arteries; also called arteriosclerosis.

  • arteriosclerosis: name for degenerative process that affects most blood vessels in most people (in varying degrees) and begins in early teens. Its progression is related in part to genetics, diet, smoking, and high blood pressure. It can be exacerbated by injuries such as trauma or surgery; it causes narrowing and irregular surfaces in blood vessels, where fatty plaque forms on vessel walls and occludes the blood supply, which leads to ischemia. It is the most frequent problem in arteries; also called ­atherosclerosis.

  • arteriovenous fistula (AVF): abnormal communication between an artery and a vein; also called AV fistula. May be the result of trauma or may be created intentionally for dialysis access.

  • arteriovenous malformation (AVM): congenital arteriovenous connection often resulting in disfigurement or malfunction. Often seen as a discolored area on the skin, but may represent a much larger diversion of blood such that it interferes with organ function. Its continuing presence may interfere with the heart because of the large alteration in flow that it creates.

  • atheroma: localized collection of arteriosclerosis (thickened arterial intima—plaque) that has degenerated.

  • blue toe syndrome: bluish or black tender and painful discoloration of a toe. It is the result of a localized acute ischemia of the toe caused by distal embolization of platelet aggregates or arteriosclerotic plaque, which then occludes the small end vessels. This represents a proximal emboligenic source, for example, aneurysm or significant arteriosclerotic plaque.

  • Buerger disease: thromboangiitis obliterans: an inflammation of the arteries (and veins) in an extremity causing severe ischemia; occurs usually in young smokers and is a pathologic variant of arteriosclerosis.

  • cerebrovascular accident (CVA): an outdated term; see stroke.

  • chilblains: breakdown of skin and swelling of the hands and feet from overexposure to cold moisture; also called thermal injuries.

  • claudication: inadequate blood flow to large muscle groups of lower limbs resulting from hardening of the arteries, causing pain, numbness, or heaviness in muscle groups brought on by exercise and relieved promptly by rest; may produce similar symptoms in the upper limbs after prolonged use; also called intermittent claudication.

  • compartment syndrome: compromise of circulation and function of tissue within a closed space caused by increased pressure within that space, with diminished oxygenated blood supply; may be due to overexertion of leg muscles, a tight bandage, or trauma. The syndrome may self-correct or progress, with eventual muscle necrosis (ischemia), loss of arterial blood supply, nerve palsy, or loss of limb. The most commonly affected compartments are the anterior leg (anterior compartment syndrome), volar forearm (leading to Volkmann ischemic contracture), and anterior thigh (rectus femoris syndrome).

  • diabetic foot disease: blood flow can be limited by thickened blood vessels and arteriosclerosis producing relative ischemia predominantly to the foot. The neurologic response is blunted, creating sensory deficit and decreased shunting of blood to the affected area. Additionally, altered anatomy, such as tightened tendons, bony changes, dry skin, and deformed nails can create a foot susceptible to infection, ulceration, osteomyelitis, and progression to limb loss.

  • embolus ( pl. emboli): blood clot or piece of atheromatous debris that blocks an artery or vein. It can also be made up of an air bubble, fat, portion of tumor, or piece of prosthetic material. An embolus may cause a heart attack if in the heart, a stroke if in the brain, and acute ischemia if in the lower limbs.

  • fibromuscular dysplasia (FMD): uncommon degenerative disease of the arteries often affecting the renal arteries of young females. The problem causes narrowing of the vessel with weblike deformities that appear as a string of beads on an arteriogram. It can also cause aneurysm.

  • fistula: abnormal communication between any two structures that normally do not communicate; can be the result of trauma, arteriosclerosis, or surgical procedure. An arteriovenous fistula may be created and used for hemodialysis. (See arteriovenous fistula [AVF]. )

  • frostbite: damage to tissue resulting from exposure to cold; may lower blood supply sufficiently to cause permanent sensory loss, chronic pain, or partial limb loss.

  • gangrene: sign of substantial ischemia involving death of tissue. May be dry (not infected) or wet (infected).

  • Hollenhorst plaque: cholesterol emboli in a small retinal eye artery. Usually indicative of carotid arteriosclerosis. May represent a transient ischemic attack or warning for a stroke.

  • infarct: area of ischemic necrosis resulting from acute interruption of blood supply. This term is often applied to areas of the brain or heart.

  • ischemia: acute or chronic decreased blood flow (perfusion) to organ or limb caused by obstruction of inflow of arterial blood or by vasoconstriction. Acutely, the symptoms include the six P s: pain, pallor, pulselessness, paresthesias, paralysis, and poikilothermia (coldness).

  • kinking: bending of an artery, causing pain; result of trauma or body position.

  • pallor: loss of color of skin representing a marked decrease in blood flow, either acute or chronic; may be present only with the elevation of the extremity.

  • peripheral arterial occlusion (PAO): results from buildup of atherosclerosis (fatty tissue) that can cut off blood supply to the limbs and feet.

  • popliteal artery cyst: degeneration of the wall of the popliteal artery resulting in a cystic-like structure within the wall of the artery that can partially or completely obstruct the artery. Not to be confused with the more common synovial or ganglion type.

  • popliteal entrapment: partial or complete obstruction of popliteal artery as a result of abnormal location of adjacent medial head of the gastrocnemius muscle. It may include an artery, vein, or nerve.

  • pseudoaneurysm: an aneurysm that does not include all three layers of the blood vessel wall. True aneurysms contain all three layers. Pseudoaneurysms can be the result of a traumatic partial disruption of a blood vessel wall, or the result of an infection that allows a surgical anastomosis to come apart slowly. An infected prosthetic graft is a typical example.

  • rest pain: distal foot pain caused by acute or chronic arterial ischemia representing a significant decrease in blood flow, usually from hardening of the arteries. The pain is burning and sharp in nature. Symptoms may be relieved temporarily by a dependent position.

  • rubor (dependent): dark purplish-red color to foot when foot is hung over the edge of bed. It represents maximally dilated capillary beds that are responding to decreased arterial inflow and their subsequent fill by gravity.

  • stroke: ischemia of a portion of the brain as a result of an occluded blood vessel from an embolus arising from the heart or great vessels of the neck; often the result of hardening of the arteries, a rupture of the blood vessel in the brain, or a tumor. (Formerly called a cerebrovascular accident [CVA]. )

  • Sudeck atrophy: vascular reflex in a limb, caused by trauma, resulting in a red, stiff, and severely painful limb; referred to as chronic regional pain syndrome when caused by trauma involving a large area or affecting a large nerve.

  • subclavian steal syndrome: reversed blood flow down the vertebral or carotid artery neck vessels away from the brain. Produced by arm activity in the face of a blocked subclavian artery. Flow is stolen down these vessels to meet the needs of the arm muscles, producing dizziness, syncope, or visual symptoms because of transient decreased blood flow.

  • transient ischemic attack (TIA): transient neurologic deficit that clears within 24 hours. Usually the result of decreased blood flow to the portion of brain from a blood clot from either the heart or extracranial carotid vessels. Usually from hardening of the arteries—atheromatous plaque breaks off and lodges in the vessels of the brain or eye.

  • venous thromboembolic d.: a clot in the venous system, usually the legs or lungs, caused by stasis, endothelial injury, or hypercoagulable state.

  • Volkmann contracture: final state of an unrelieved forearm compartment syndrome; decreased blood supply to forearm muscles resulting in muscle death, contractures of tendons to wrist and hand, and a claw-hand deformity. This usually starts out as a compartment syndrome that develops after an elbow or forearm fracture.

Collagen Vascular Disorders

Collagen vascular diseases are a series of disorders relating to the basic building blocks of the body, that is, collagen. The walls of blood vessels are made up of collagen, a type of protein seen in all connective tissue such as bone, cartilage, and tendon. Certain diseases affect the collagen, particularly in scattered blood vessels.

Through a variety of mechanisms, the immune system of the body begins to attack, thereby causing degeneration in small blood vessels and parts of the bony anatomy (joint capsule, synovial fluid of joint and synovium). The systemic inflammatory condition that results can be mildly inconvenient or severely disabling, or can result in death. Certain diseases such as rheumatoid arthritis affect this collagen and, as a result, interfere with the function of bones, joints, and blood vessels. The term inflammatory joint disease is often used to describe gout, pseudogout, and some other systemic causes of arthritis.

Dyscollagenosis and systemic connectivitis are older terms specifically related to the collagen vascular disorders that are due to immune processes such as rheumatoid arthritis, systemic lupus erythematosus, Sjögren syndrome, progressive systemic sclerosis, polyarteritis nodosa, polymyositis, dermatomyositis, and eosinophilic fasciitis. This spectrum of disorders represents the effects on the different collagens of the joint lining and vascular walls.

The treatment of these disorders is often complicated and frustrating for both patient and physician. Medication often involves corticosteroids (antiinflammatory drugs) and nonsteroidal antiinflammatory drugs (ibuprofen, aspirin), and often drugs that directly interfere with the immune mechanism of the body (antimetabolites). Rheumatology is the specialty devoted to the diagnosis and treatment of these systemic conditions. A rheumatologist is an internal medical specialist. Although rheumatologists often deal with nonsystemic joint diseases, specialty training in this field equips them with the pharmacologic knowledge required to diagnose the broad spectrum of autoimmune, collagen vascular, and metabolic joint disorders.

Terms associated with these various conditions are discussed here along with a series of other miscellaneous disorders.

  • acrosclerosis: thickening of the skin and other soft tissues of the distal part of a limb. This is usually a part of a larger disease complex such as scleroderma or CREST syndrome.

  • ankylosing spondylitis: inflammatory joint disease mainly affecting the spine, hips, and pelvis. Seen most commonly in young men, this can lead to fusion of the spine with deformity, depending on the position of the spine during the fusion process. Seen in the child, the disorder is called Marie-Strümpell disease or rheumatoid spondylitis.

  • arteritis: inflammation of small arteries.

  • calcinosis circumscripta: quadrad of calcium deposits in the skin (calcinosis cutis), Raynaud phenomenon, scleroderma, and telangiectasia is seen in this collagen disease that has been considered a variant of scleroderma.

  • CREST syndrome (limited scleroderma): complex of c alcinosis of articular tissue associated with R aynaud phenomenon, e sophageal dysmotility, s clerodactyly, and t elangiectasia. This condition appears to be less aggressive than scleroderma.

  • dermatomyositis: idiopathic, autoimmune, inflammatory myopathy characterized by proximal limb and neck weakness. Muscles may become painful, weak, and stiff. A rash can appear on the knees, knuckles, and elbows. The pathologic findings are muscle necrosis and regeneration.

  • ergotism: acute or chronic effects of ergot alkaloids on the blood flow to an organ such as the brain or limbs. Ergot alkaloids are in some plants and medicines that are taken for headaches.

  • Felty syndrome: a combination of chronic rheumatoid arthritis, enlarged spleen, and a reduced number of granulocytes in the white blood count.

  • focal scleroderma: disease of unknown cause characterized by circumscribed areas of fibrosis of the skin, subcutaneous fat, fascia, and muscle into bone. It is usually restricted to a limb and usually occurs in children and young adults; also called Addison’s keloid.

  • intermittent hydrarthrosis: rare disorder characterized by recurrent swelling in joints with no associated problems or deformity.

  • Jaccoud syndrome: deformity of hands and feet as a result of recurrent episodes of rheumatic fever or lupus synovitis. It is often mistaken for rheumatoid arthritis.

  • lupus erythematosus: disease affecting not only the joints but also heart, heart lining, and circulation in bone. It is life threatening, although a protracted mild course is possible. This disease may be called systemic lupus erythematosus to distinguish it from discoid lupus, a more benign process.

  • Marie-Strümpell d.: begins in childhood, similar to rheumatoid arthritis, usually resulting in ankylosis of the spine and involvement of the liver and spleen; also called rheumatoid spondylitis or ankylosing spondylitis.

  • Mönckeberg sclerosis: calcification of the middle coat of small and medium-sized muscular arteries; medial arteriosclerosis.

  • palindromic rheumatism: recurrent acute arthritis and periarthritis with symptom-free intervals of days to months. A number of patients with this disorder develop rheumatoid arthritis.

  • polyarteritis nodosa: disease-causing nodules in small arteries with some microscopic clotting, resulting in muscle cramps and eventual loss of muscle tone; can be severe.

  • polymyalgia rheumatica: a syndrome of pain or stiffness affecting the muscles, with some associated with an inflammatory condition of blood vessels. It is typically treated with oral corticosteroids and usually goes away in several years.

  • progressive systemic sclerosis: spectrum of disorders characterized by fibrosis and degenerative changes in the skin. This includes scleroderma and CREST syndrome.

  • polymyositis: seen in adults with muscle weakness in the proximal upper and lower limbs. Weakness is usually progressive and associated with an autoimmune process.

  • pyoderma gangrenosum: rare, destructive cutaneous lesion that starts as a painful, rapidly enlarging ulcer leading to a chronic, draining wound. This is often associated with inflammatory bowel disease, rheumatoid arthritis, seronegative arthritides, hematologic malignancies, and monoclonal gammopathies.

  • Raynaud d. or phenomenon: small arterioles of upper limbs, particularly of the fingertips, become extremely sensitive to cold, and the vessels undergo segmental spasm, interrupting blood flow to tissue; occasionally progresses to necrosis and dry gangrene in fingertips.

  • rheumatoid arthritis: generalized inflammatory joint disease. In children, it is called juvenile idiopathic arthritis and Still disease. The disease may result in mild, lifelong discomfort, or it may become severely crippling; in some cases, there is associated skin nodularity. Certain laboratory studies support the diagnosis (positive rheumatoid factor).

  • scleroderma: disease causing a waxy thickening of the skin and classically affecting swallowing; tends to be severely progressive.

  • Sjögren syndrome: a group of conditions including keratoconjunctivitis sicca (dry eyes), arthritis, dry mouth, and enlargement of the parotid glands.

  • vasoconstriction: narrowing of vessel lumen caused by contraction of muscular vessel walls.

  • vasodilatation: enlargement of vessel lumen caused by relaxing of muscular vessel wall.

  • vasospastic: localized intermittent contraction of a blood vessel.

Blood Vessel Disorders

  • port wine hemangioma: a birthmark that occurs most often in the face and persists for life. This may occasionally be a part of a congenital disease.

Associated Vascular Conditions

  • acrocyanosis: mottling of the skin of the extremity not produced by major vascular occlusions. It may be related to an emotional change or temperature.

  • atrophy: reduction in size of an anatomic structure, often related to disuse or decreased blood supply.

  • arrhythmia: abnormal rhythm of the heart.

  • bradycardia: abnormal slowing of heart rate, usually less than 60 beats/minute.

  • bruit: abnormal sound on mediate auscultation over a blood vessel or the heart that indicates turbulence.

  • congestive heart failure: condition in which heart is unable to pump out venous blood returning to it, resulting in pooling of venous blood and accumulation of fluid in various parts of the body (lungs, legs, etc.).

  • cyanosis: bluish-purple discoloration of the skin or nail beds; represents decreased blood flow to that area.

  • hypercholesterolemia: elevated blood cholesterol level; also called hypercholesteremia and hypercholesterinemia.

  • hypertension: elevated blood pressure, either temporary or permanent; may be an elevation of the systolic or diastolic blood vessels or pressure.

  • hypotension: blood pressure below normal.

  • hypovolemia: loss of normal amount of circulating blood volume; could be the result of hemorrhage from trauma, or from an ulcer.

  • hypoxia: decreased amount of oxygen in any given tissue.

  • Klippel-Trenaunay syndrome: rare condition with three characteristic features: a port-wine stain birthmark, abnormal overgrowth of soft tissues and bones, and vein malformations. Also called Klippel–Trénaunay–Weber syndrome, angioosteohypertrophy syndrome, hemangiectatic hypertrophy.

  • myocardial infarction (MI): acute or chronic blockage of blood vessels to the heart, resulting in localized area of ischemia (heart attack).

  • necrosis: pathologic definition of death of tissues caused by lack of blood supply to that part. May be due to burns, frostbite, or any insult to blood supply.

  • normotensive: referring to normal blood pressure.

  • occlusion: closed or shut, such as an occluded artery or vein.

  • palpitation: sensation either by patient or examiner of irregular heartbeat.

  • phlegmasia cerulea dolens: an acute, rare condition that includes a nonpitting edema (swelling that cannot be indented with pressure) in the legs associated with a cyanotic mottled appearance and high muscle compartment pressures. This has been associated with the use of vena cava filters.

  • stasis: decrease or absence of blood flow in the venous circulation.

  • stenosis: narrowing of lumen of blood vessel; a stricture.

  • tachycardia: abnormal increase in heart rate, usually more than 100 beats/minute in an adult.

Neurologic Diseases

Neuro – (Gr. neuron , nerve) is a combining form denoting the relationship to a nerve or nerves, or to the nervous system in general. Of all the specialties in medicine, neurology interrelates with orthopaedics more often than any other. The presenting symptoms of certain neurologic disorders may be quite similar to those of some orthopaedic disorders or diseases in that they result in muscular loss, altered function, and possible deformities, particularly in growing individuals.

In orthopaedic diagnoses, the nervous system is considered in two portions, the central and the peripheral. The central portion is composed of the brain and spinal cord and their covering soft tissues. The peripheral portion is composed of all the nerves in the body. Because some diseases affect both the central and peripheral nervous systems simultaneously, discussion of both is presented in an alphabetic listing of nerve disorders, except for some eponymic terms that belong to a specific category. The same term may be defined several times in this chapter to avoid cross-referencing.

General Neurologic Diseases

  • allodynia: a condition in which nonpainful stimuli, such as touch or light pressure, cause pain.

  • amyotrophic lateral sclerosis (ALS): progressive disease seen in adult life affecting nerve cells in the brain and spinal cord, with loss of motor control and eventual death; also called Charcot d. and Lou Gehrig d.

  • anterior cord syndrome: anterior spinal cord injury resulting in disruption of blood supply with complete motor paralysis below the level of the lesion and loss of pain and temperature sensation.

  • apraxia: inability to perform purposeful movements although there is no sensory or motor impairment; also called kinetic apraxia and motor apraxia.

  • arachnoiditis: inflammatory disease of the covering, spider web–like membrane of the spinal cord and nerves. In the lumbar spine, this condition can lead to fibrosis that will bind the roots of the cauda equina.

  • atonia: lack of tone or tension; relaxation, flaccidity.

  • autonomic dysreflexia: syndrome marked by muscle spasms, low blood pressure, headache, sweating, goose bumps, and other signs of autonomic nervous system instability. It can be associated with spontaneous joint dislocation.

  • axonotmesis: disruption of nerve plasma without disruption of the axon sheath, resulting in a recovery of nerve function during a period of up to 3 years.

  • cerebral palsy (CP): general term applied to nonprogressive central nervous system disorders caused by an insult to the developing brain before or during birth or in infancy. Impaired motor control results in physical disability with a broad spectrum of patterns and severity of involvement. Frequently described by pattern and type of involvement (e.g., spastic diplegia ).

Dec 24, 2021 | Posted by in ORTHOPEDIC | Comments Off on Musculoskeletal Diseases and Related Terms
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