A 64-year-old woman, in whom scleroderma was diagnosed 6 years earlier, presented for a regular follow-up visit. The disease first manifested in the hands as Raynaud phenomenon and then sclerodactyly. The latter eventually advanced to the so-called clawhand, a flexion deformity that is very disabling (A). Later, she began to notice changes in her facial skin. At first, the skin became more firm and waxy, then her lips began to retract from her teeth; rhagades appeared in the perioral skin (B).
Scleroderma is caused by excess deposition of collagen in the dermis. This uncommon systemic disease is thought to be of autoimmune origin. It may affect only limited areas of skin with little, if any, internal involvement. In this patient, however, virtually all of her skin, as well as internal organs, was involved.
Sclerotic esophageal changes have made it impossible for her to eat solid food. Since placement of an indwelling gastric feeding tube, she has been gradually losing weight; she currently weighs less than 40.5 kg (90 lb). She also has chronic renal failure and pulmonary involvement. Her prognosis is quite poor. She has already outlived the 5-year 50% survival rate.
Diagnosis of scleroderma requires at least the presence of Raynaud phenomenon, sclerodactyly, and a positive antinuclear antibody, in the absence of signs of other connective-tissue diseases. Dermatologic and rheumatologic consultation may be necessary, because many patients have features of multiple conditions that require further laboratory workup for diagnosis.
In addition to treatment of specific problems, such as H2 blockers for esophageal reflux, most patients are given penicillamine, which slows down the production of collagen. Because penicillamine therapy is associated with significant adverse effects and a 30% dropout rate, many patients are also treated with corticosteroids, interferon, cyclosporine, and extracorporeal photochemotherapy. Responses to all of these adjuvant therapies are inconsistent.
(Case and photographs courtesy of Joe R. Monroe, PA-C, MPAS.)