Abstract
Dupuytren disease is a nonmalignant, slowly progressive fibroproliferative disorder causing progressive thickening and shortening of the palmar fascia leading to debilitating digital and permanent contracture. Dupuytren contracture belongs to the group of fibromatoses. A wide range of procedural, rehabilitation, and surgical options exists.
Definition
Dupuytren disease is a nonmalignant, slowly progressive fibroproliferative disorder causing progressive thickening and shortening of the palmar fascia leading to debilitating and permanent digital contracture. Subsequent flexion contracture usually begins with the fourth and fifth digits on the ulnar side of the hand and may progress to involve metacarpophalangeal (MCP) joints or the proximal interphalangeal (PIP) joints ( Fig. 29.1 ). Dupuytren contracture belongs to the group of fibromatoses that include plantar fibromatosis (Ledderhose disease), penile fibromatosis (Peyronie disease), and fibromatosis of the dorsal PIP joints (Garrod nodes or knuckle pads). The eponym “Cooper contracture” has been suggested for Astley Cooper, who first described and lectured on the entity in 1822, but is seldom referenced in lieu of Baron Dupuytren, Guillaume, personal doctor of Napoleon and Louis XVI, who described the disease in 1833. The primary lesion is a nodule beginning in the palm, presenting initially as a firm, soft tissue mass fixed to both the skin and the deeper fascia. It is characterized histologically by dense, noninflammatory, chaotic cellular tissue and appears on the anterior aspect of the palmar aponeurosis.
The key cell response for tissue contraction in Dupuytren disease is thought to be the fibroblast and its differentiation into a myofibroblast. This idiopathic activation happens in response to the fibrogenic cytokines interleukin-1, prostaglandin F 2 , prostaglandin E 2 , platelet-derived growth factor, connective tissue-derived growth factor, and, most important, transforming growth factor-β and fibroblast growth factor 2. In addition, microRNAs (miRNAs) identified in Dupuytren contracture samples, including miR-29c, miR-130b, miR-101, miR-30b, and miR-140-3p, were found to regulate important genes related to the β-catenin pathway: WNT5A, ZIC1, and TGFB1 . As the nodule extends slowly, it induces shortening and tension on the longitudinal fascial bands of the palmar aponeurosis, resulting in cords of hypertrophied tissue. It is unique among ailments of the hand, and one could conceive of it as a focal autoimmune collagen vascular phenomenon. Dupuytren disease is thought to begin in the overlying dermis. Unlike the nodule, the cord is strikingly different histologically; it contains few or no myofibroblasts and few fibroblasts in a dense collagen matrix with less vascularity. Skin changes are the earliest signs of Dupuytren disease, including thickening of the palmar skin and underlying subcutaneous tissue. Rippling of the skin can occur before the development of a digital flexion deformity.
A controversy exists as to whether there is a relationship between Dupuytren disease and repetitive microtrauma, but more recent meta-analysis does seem to suggest some degree of occupational correlation with manual work and vibration exposure.
It is now thought that microruptures, vibration, and trauma are related to development of the contracture. When considering that more than half of male field hockey players in the Netherlands over age 60 have Dupuytren disease, an environmental genetic-predisposition interaction is also supported. Cessation of manual labor and immobilization can lead to acceleration of the disease, which has been noted in laborers after retirement. A genetic predisposition is thought to be inherited as an autosomal dominant trait on chromosome 16q with variable penetrance of heritable and sporadic forms. Family history is often unreliable, as many individuals are unaware they have family members with the disease. Dupuytren disease has been termed “Viking disease” because it has a high prevalence in areas that were populated by the Vikings and where the Vikings migrated. Global prevalence is 3% to 6% of the white population, and it is rare in nonwhite populations. Dupuytren disease occurs more commonly in the elderly but tends to be associated with greater functional compromise in younger patients. Women are affected half as often as men. There is no relationship to handedness; however, affected individuals tend to complain more frequently about the dominant hand. Other associations with the condition include diabetes mellitus (specifically with an increased risk from diet-controlled diabetes to sulfonylureas to metformin to insulin requiring), BRAF inhibitor treatment (Vemurafenib), alcohol consumption, cigarette smoking, human immunodeficiency virus infection, and antecedent Colles fracture. Conflicting reports exist of an association with epilepsy, but antiepileptic drugs do not present an increased risk.
There are potential secondary findings in Dupuytren disease that are rarely seen, but when present suggest a strong Dupuytren diathesis (genetic penetrance of the disease). These findings include knuckle pads (Garrod nodes), plantar fascial disease, and Peyronie disease. The contractile tissue in all of these conditions resembles the pathologic findings of Dupuytren disease in the palm, and alterations in the expression of certain gene families, fibroblast to myofibroblast differentiation among others, are similar. However, these associated conditions are found in only an estimated 1% or less of patients with Dupuytren disease.
All patients with the disease have a diathesis, or genetic tendency, towards the disease, making recurrence, bilateral involvement, and need for repeat and or ongoing care likely. Association with these conditions, as well as onset at an early age, and family history suggest the diathesis is strong. Recognition of a strong diathesis is important for planning an appropriate rehabilitation protocol, including long-term follow-up and awareness of possible poor prognosis and likelihood of recurrence with surgical treatment.
Symptoms
Dupuytren disease typically has a painless onset and progression. Decreased range of motion, loss of dexterity, and getting the hand “caught” when trying to place it in one’s pant-pocket are common presenting symptoms. Pain can be a result of concomitant injuries to the hand and fingers that can precede the development or worsening of Dupuytren disease. Abrasions or ecchymosis to the distal interphalangeal and PIP joints of the affected digits may be seen and may be the reason for the initial consultation. With use of the relatively new Dupuytren Disease Scale of Subjective Well-Being of patients’ questionnaire, which covers four areas of the quality of life, there were no differences in quality of life in patients affected in the left or right hand regardless of hand dominance of the patients.
The progression of the condition is generally considered to be a result of immobility after an injury in a predisposed individual rather than of the injury itself. Pure sensory symptoms in digits four and five may arise from palmar digital nerves against the relatively inelastic deep transverse metacarpal ligament.
Physical Examination
The most common first sign of Dupuytren disease is a lump in the palm close to the distal palmar crease and in the axis of the ray of the fourth digit (ring finger) ( Fig. 29.2 ). It can also be manifested in the digit, generally over the proximal phalanx. The thumb and index finger are the least affected of the five digits. The nodule can be tender to palpation. In most cases, the skin is closely adherent to the nodule, and movement with tendon excursion often suggests other conditions, such as stenosing tenosynovitis. The condition is more readily apparent when it is manifested in a more advanced stage with palmar nodule, cord, and digital flexion contracture. Conditions associated with this disease include fat pads at the knuckles and evidence of the disease in the plantar fascia. “Swan-neck” deformity as a dorsal variant of Dupuytren disease has been suggested.
The examination should evaluate the range of motion and kinetic chain of the entire upper limb, including associated adhesive capsulitis, epicondylitis, other tenosynovitis and digital nerve or vascular compromise. Sensory, manual motor, and muscle stretch reflex components of the neurologic examination should be normal. Upper motor neuron findings should be absent.
Functional Limitations
The majority of individuals with this condition have little functional limitation early on. With more advanced contracture, properly opening the palm and grasping can become difficult, making gripping activities such as activities of daily living, opening cans, buttoning shirts, and placing keys in automotive ignitions troublesome. In many cases, the insidious onset allows gradual compensation, and outside observers may notice irregularity during a simple hand shake.
Diagnostic Studies
The diagnosis of Dupuytren disease is generally made on a clinical basis. Biopsy is considered when a palmar soft tissue mass cannot be reliably differentiated from sarcoma. The suspicion for sarcoma is higher in a younger individual with no strong evidence of Dupuytren disease because sarcoma is more likely in younger age groups. Unfortunately, histologic differentiation is not always easy because a Dupuytren nodule can appear cellular with mitotic figures and closely resemble an aggressive sarcoma. Blood work relevant to underlying secondary disease (e.g., hemoglobin A 1c level, human immunodeficiency virus testing, uric acid level, erythrocyte sedimentation rate) should be entertained. Electrodiagnostic studies are usually normal. However, concomitant median or ulnar neuropathy at the wrist, or compromise of digital nerves, can cause sensory complaints. Dupuytren tissue may compress the palmar digital nerves against the relatively inelastic deep transverse metacarpal ligament. Sensory nerve action potentials should be recorded to digit four and not just digit five, with healthy nerves screened for concomitant peripheral neuropathy that may affect postoperative rehabilitation.
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