Hippocrates described the clinical findings associated with scleroderma including thickened skin in his writings from 460 bc . The first detailed description of the condition came from Dr. Carlo Curzio in Naples in 1752 when he saw a patient with woodlike hardened skin. His patient was a 17-year-old girl who was assigned to him upon her admission to the hospital. He chronicled her symptoms and her treatment in his monograph. These symptoms included tightness around the mouth and hardness of the skin in different areas of the body and around the neck. Treatments used at that time included baths in vapor and warm milk, bleeding from the foot, and small therapeutic doses of quicksilver. Robert H. Goetz was the first to develop a detailed description of scleroderma as a systemic disease and to document the progressive nature of the disease in 1945.
Scleroderma is derived from the Greek words skleros , meaning hard or indurated, and derma , meaning skin. Systemic sclerosis is characterized by skin induration and thickening as well as tissue fibrosis of visceral organs and alterations in immunity. The American College of Rheumatology has developed diagnostic criteria for systemic sclerosis, and diagnosis requires the presence of one major criterion or two minor criteria.
Major criteria include symmetrical thickening, tightening, and induration of the skin of the fingers and proximal to the metacarpophalangeal (MCP) joints. The involvement may extend even further proximally to include the entire upper extremity, face, neck, and trunk.
Minor criteria include sclerodactyly limited only to the fingers, pitting scars of the digits or ischemic loss of the substance of the pads of the digits, and bibasilar pulmonary fibrosis.
CREST is the acronym used to describe the clinical features of systemic sclerosis, including calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. This constellation of symptoms is seen in limited scleroderma. Diffuse scleroderma is characterized by involvement of multiple visceral organs leading to pulmonary fibrosis and pulmonary hypertension, renal insufficiency, and renal crisis. The findings of sclerodactyly and digital ulceration are seen with equal frequency in both the limited and diffuse forms of the disease. ( Table 111-1 ).
|Parameter||Diffuse Scleroderma||Limited Scleroderma/CREST *|
|Frequency||30% to 40%||60% to 65%|
|Skin involvement||Proximal trunk and extremities||Fingers, feet, face|
|Raynaud’s phenomenon||Concomitant with disease onset||May precede other features by years|
|Telangiectasia||May be present||Often extensive, florid|
|Renal disease||30% to 40%||None|
|Pulmonary fibrosis||30% to 40%||10% to 20%|
|Pulmonary hypertension||20%, usually with interstitial lung disease||Late, 20% to 50%|
* Calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia.
The risk of systemic sclerosis is higher in blacks and in women, with women four times greater than men. The peak onset is between 30 and 50 years of age. The estimated prevalence of the disease is 1 case per 4000 population.
Physical examination findings include changes in the pigmentation of the skin to alternating areas of hyperpigmentation and hypopigmentation, a so-called salt-and-pepper appearance. Dilated telangiectatic small vessels just beneath the skin may be visible. Edematous skin progressing eventually to tight and shiny hardened skin with loss of folds, loss of sweating, and hair loss is also characteristic. These changes usually start distally in the fingers and progress proximally over time. Cutaneous calcinosis is common especially in the digits. Flexion contractures of the joints may eventually occur as well as bony resorption of the distal phalanx. Raynaud’s phenomenon ( Fig. 111-1 ) is seen early in the disease and is distinguished by episodes during which the fingers turn white, then blue, then finally red, and is the result of intermittent digital vasospasm. There can be some overlap with findings seen in other similar disorders such as lupus, rheumatoid arthritis, and dermatomyositis; this is known as overlap syndrome .
Digital deformity follows a rather predictable pattern with time in these patients ( Fig. 111-2 ). Flexion contractures develop in the proximal interphalangeal (PIP) joints. These begin with loss of the ability to extend the PIP joints with the resultant development of stiffness and contracture. These can become quite severe with time. The skin located over the dorsum of the joints may blanch due to the severe flexion deformity coupled with the hardened skin. Thinning of the extensor mechanism may eventually result in rupture. The skin may eventually break down with progressive increase in severity of the deformity. The underlying PIP joint may then become exposed, predisposing the patient to infection of the joint or bone.
With the increasing PIP flexion deformity comes the compensatory hyperextension deformity at the MCP joints. With longstanding hyperextension deformities, the soft tissue structures including collateral ligaments and capsular tissues contract, resulting in stiffness at the MCP joint level as well.
Rarely, a hyperextension deformity at the PIP joint occurs as a result of subluxation at the MCP joint level.
A contracture typically develops in the first webspace as well. This limits the patient’s ability to grasp objects, especially larger things ( Fig. 111-3 ). This is a result of the tightening of the skin and underlying deeper soft tissue structures in this area.
Soft tissue calcinosis is also commonly seen in these patients ( Fig. 111-4 ). This can be especially problematic when it develops over the already compromised skin over the dorsal aspect of the flexed PIP joints and can result in skin breakdown and difficulty in healing.
Surgical treatment can be very challenging in patients with scleroderma for many reasons. There is potential difficulty with healing of surgical incisions postoperatively due to poor skin quality and impaired vascularity as a result of the disease. There is also a high risk of recurrence of the deformities due to the underlying disease process. Surgical treatment is therefore undertaken after a course of conservative management including therapy and orthotic positioning as described in the previous chapter.
Surgical treatment in patients with scleroderma can be aimed at the predictable problems that develop including calcinosis in the soft tissues, joint contractures, and digital ischemia with ulcerations.
Calcinosis involving the soft tissues of the hand is associated with collagen vascular disease up to 60% of the time. It occurs most frequently over bony prominences and points of stress and is thought to be a result of mechanical stress in addition to the underlying systemic process. It is often found over the dorsal aspect of PIP joints affected by flexion deformity and along the radial portion of the digits that oppose the thumb during pinch, mainly the index and long fingers. Occasionally the soft tissue calcifications can become symptomatic, especially when they form in the distal tips of the digits. Patients may complain of pain or may develop recurrent trauma to the skin over the area, resulting in skin breakdown and difficulty healing, predisposing the patient to infection. If the skin does break down, white chalky-appearing drainage may be seen. In these patients, excision of the calcifications can be helpful in improving pain and function of the hand. It should be remembered that manipulation of the skin and development of skin flaps in these surgeries can result in necrosis of the flaps and the creation of further problems for the patient. MacDowell has described a technique that can be used in some instances to perform limited excision of calcifications through a small incision and use of a high-speed bur to break up the calcifications for subsequent irrigation out of the tissues. Often complete resection is not necessary, and simple debulking of the calcinosis can be very helpful in relieving symptoms.
Proximal Interphalangeal Joint Contracture
Herrick studied the limitations and abilities of patients with systemic sclerosis using a functional questionnaire. It was determined that the largest functional limitations were the result of contractures and decreased range of motion in the hands. Therefore, surgically addressing and improving the contractures in the hands of a scleroderma patient can be an important and life-changing undertaking. Surgical treatment of the PIP joints may consist of soft tissue procedures, joint arthrodesis, or joint arthroplasty.
Reconstructive soft tissue procedures should usually be reserved for younger patients with less severe joint deformities. The risk of the development of recurrent deformities is high if soft tissue procedures are performed, but they can provide improvement in function for a period of time. Surgical treatment consists of releasing or excising the volar plate and collateral ligaments at the level of the PIP joints to correct the flexion deformity. Skin coverage will probably be necessary for the palmar aspect of the joint, and most often this is done with full-thickness skin grafting. A midaxial or palmar incision is recommended in this setting. Anandacoomarasamy found that the tight volar skin was the structure contributing most to the flexion deformity at the PIP joint. The tight volar plate and collateral ligaments do contribute but to a lesser degree to the overall deformity. The patients treated surgically with soft tissue procedures do tend to maintain the improved position of the joints, but the joints often become stiff again with progression of the disease.
Arthrodesis is a more common surgical treatment for joint contracture encountered in scleroderma patients occurring at the level of the PIP joint. It can be undertaken using tension band fixation or other methods based on the preferences of the operating surgeon ( Fig. 111-5 ). Lipscomb found that interphalangeal (IP) joint arthrodesis attempts in patients with scleroderma resulted in solid bony fusion in all of the patients treated. In addition, time to ultimate fusion was found to be shorter than in cases in which arthrodesis is attempted for other conditions. Judicious shortening of the bony elements is necessary for correction of the deformity and to minimize stress on the vascular structures. The standard accepted positions of arthrodesis are applicable in patients with scleroderma. However, due to the associated vascular insufficiency that is often present, the digits may not tolerate the desired amount of straightening, and fusion in a slightly more flexed position may be required to maintain vascularity of the digit. This should be assessed intraoperatively following arthrodesis at the PIP joint level, and the position of the digit should be adjusted to maintain viability of the digit.