Fabry's Disease: Glycolipid Lipidosis

Abstract

THE PURPOSE of this paper is to report skin findings not previously described in Fabry's disease and to call to the attention of physicians a simple method of diagnosis which distinguishes the disorder from another more benign condition which may have similar skin lesions. The classical skin lesions of angiokeratoma corporis diffusum are 0.1-3.0 mm diameter red to purple macules and papules on the scrotum and other areas of the body. Some have a hyperkeratotic surface. As first described by Fabry in 1898, 1 the disorder was considered to be of dermatologic importance only. Anderson, reporting another case at about the same time, suggested that renal lesions similar to those in the skin might have accounted for his patient's hematuria. 2 This condition is now known to be a systemic disease in which a glycolipid, ceramide-trihexoside, 3,4 is stored in many kinds of cells, including renal and bronchial epithelium, cardiac