Scleromyxoedema

Abstract

Scleromyxedema is one of a number of skin conditions that mimic scleroderma, and this includes scleroderma and fasciitis. Scleromyxedema is an uncommon disease in which an acid mucin-rich extracellular connective tissue accumulates in the dermis and leads to skin thickening. It is one of the fibromucinoses. Scleromyxedema is one of the worst forms of this condition that can be fatal due to involvement of the upper gastrointestinal tract or lungs. It is most often associated with a paraprotein, usually an IgGl, although this is usually a benign plasma cell dyscrasia and progression to myeloma is unusual. Absence of Raynaud’s phenomenon, normal nailfold capillaroscopic findings and relative sparing of the fingers and distal skin are features that permit clear differentiation of scleromyxedema from systemic sclerosis. In addition there is often a cobblestone appearance of the epidermis with waxy infiltrative papules. Treatment is challenging but includes use of immunosuppressive agents such as methotrexate or mycophenolate mofetil. Some cases appear to respond to regular intravenous immunoglobulin, and some very severe cases have been treated with myeloablative immunosuppression and autologous peripheral stem cell transplantation although the benefit of such intensive treatments is uncertain.