Scleroderma is a multisystem disease and therefore can present with a variety of symptoms. The most prominent of these symptoms is skin hardening. Early on, the skin may become swollen and itchy, then it becomes harder and a over a two year period it reaches its peak in hardness. In some patients the skin becomes more supple after two years. Associated with scleroderma is a condition called Raynaud's phenomenon, which is a vasospasm of the digital arteries and can lead to painful blanching or bluish discoloration of the fingers on exposure to cold weather or trauma. Other signs in the early stages of the disease include painful joints, muscle aches, fatigue, as well as heartburn and occasionally shortness of breath.

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The underlying feature of patients with scleroderma is the presence of a thickened skin. Sometimes it is hyperpigmented, but in other cases especially on the upper torso, chest and back there is often accompanied hypopigmented areas. The fingers are always involved in scleroderma and the skin becomes very tight and one notices the loss of wrinkling between the distal joints of the digits. Raynaud's phenomenon may also be found on exam. If present the fingers, and occasionally the toes will change color and turn blue or white. Sometimes color changes can be seen on the ears, nose or lips as well. The classic changes in colors are from white to blue and then red. Other skin findings are what are called telangiectasias seen in the limited forms of scleroderma and these are dilated capillaries with a spider-like appearance. They are often on the hands, face, lips and inside the mouth. In the limited form, calcinosis is also seen. These are calcium deposits underneath the skin typically seen on fingers but can occur anywhere. Another less common finding is a tendon friction rub, which can be felt while moving an extremity through a range of motion.

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The anti-nuclear antibody (ANA) is generally positive. In the presence of Raynaud's Phenomenon a centromere pattern is often seen. In the systemic form an anti-Scl-70 is also positive. In the systemic form when muscle is involved, an elevated CPK, which is a muscle enzyme detecting inflammation, is often elevated. If the kidneys are involved there may be a rise in both the BUN (blood urea nitrogen) and the creatinine accompanied by an elevated blood pressure. If the gastrointestinal tract is involved, a CBC may demonstrate a mild anemia as a result of persistent esophagitis which can lead to erosions and bleeding. In patients with CREST syndrome, the presence of an anti-RNA polymerase antibody is associated with an increased risk for cardiac and renal disease and antifibrillarin is associated with heart and lung involvement. The presence of either of these antibodies is associated with a poor prognosis.

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The diagnosis of systemic sclerosis (scleroderma) has been defined by the American College of Rheumatology. These include major and minor criteria. A major criterion is the involvement of the skin with sclerodermatous changes of not only the fingers and toes, but also extending beyond the knuckles (called metacarpal joints) or the metatarsophalangeal joints in the feet. The minor criteria include the following: 1. Sclerodactyly (tightening of the skin). 2. Digital pitting scars. 3. Basilar pulmonary fibrosis (scarring at the base of the lungs). If one major and two minor criteria are found, the diagnosis of definite systemic sclerosis can be made, however, these criteria will not define 100% of patients with systemic sclerosis and will require a specialist such as a rheumatologist to follow the patient to determine the diagnosis. There are also look-a-like forms of scleroderma called morphea and linear scleroderma which overall have better prognoses, and another limited form of systemic sclerosis also referred to as CREST syndrome (which is explained under frequently asked questions).

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The treatment of systemic sclerosis remains a difficult challenge. Agents such as steroids for the early forms of scleroderma and swelling and itching of the skin are sometimes helpful along with the use of PUVA light treatments to control the severe itching symptoms. Penicillamine in low doses has been shown in retrospective studies to be helpful, but needs to be monitored carefully because of side-effects. With pulmonary involvement, the use of cytotoxic agents have been recommended. Treatment for the skin especially the subcutaneous calcium deposits referred to as calcinosis, is generally conservative. Occasionally a flare or irritation of a calcium deposit will occur and a short course of colchicine 0.6 mg po twice daily may give prompt relief. Occasionally these calcium nodules become infected and need to be surgically removed along with antibiotic therapy. Otherwise areas of involvement with subcutaneous calcium deposits should be treated conservatively and the avoidance of trauma to these areas is recommended. In patients with Raynaud's phenomenon which is sometimes complicated by the occurrence of digital ulcers, vasodilators particularly calcium channel blockers used in short courses is recommended. Nifedipine at 10 mg given up to three times a day on an as needed basis is very effective in some patients with Raynaud's phenomenon. Other agents include topical nitroglycerin paste, amlodipine, and prazosin. Should a digital ulcer occur, prompt attention to avoid infection is necessary. For gastrointestinal symptoms, proton pump blocking agents are helpful. Cardiac involvement may be secondary to severe pulmonary interstitial disease and pulmonary hypertension and aggressive treatment such as intravenous prostacyclin therapy may be needed. In patients with "renal crises", certain blood pressure controlling medicines referred to as ACE (angiotensin converting enzyme) inhibitors are capable of reversing underlying kidney involvement if treated early on.

Joel Rutstein M.D.
Rodolfo Molina, M.D.