Stem cell transplant used to treat scleroderma variant.

A man with a rare, potentially fatal skin disorder that was so severe he no longer could eat now is symptom-free after receiving an autologous stem cell transplant (SCT), according to a report in the August issue of the Archives of Dermatology.

The disorder, scleromyxedema, is similar to scleroderma, a chronic connective tissue disease in which the skin thickens and becomes shiny and stiff. The cause of the condition is unknown, and treatment often is ineffective. Six years earlier, the patient, a 46-year-old white male, had developed itchy spots on his hands that disappeared after oral and topical steroid therapy. Three years later, the abnormalities returned as waxy, thickened skin, and the diagnosis was made. Despite treatment with steroids and other drugs, the disease rapidly progressed over the next 2 years. Eventually, the man's face took on a "cobblestone" appearance, and he no longer could close his eyes completely.

Subsequent photopheresis, in which the patient's white blood cells were exposed to ultraviolet light and then returned to his blood stream, restored the normal tightness of his skin, but the benefits were transient. By then, his disease had progressed to the point where he was unable to eat and had lost a significant amount of weight. Doctors at the University of Texas MD Anderson Cancer Center in Houston decided the best course of action was to perform an autologous SCT. Three months posttransplant, the cobblestone appearance of the patient's face had disappeared, and he was able to close his eyes and eat normally. Since the procedure, he has gained more than 25 pounds.

"To our knowledge, this is the first report of treating scleromyxedema with transplantation, and additional investigations would be helpful for determining the response rate for progressive [forms of the disease]," wrote Adrienne Feasel, MD and colleagues.