To the Editor.—
Fabry's disease, also known as angiokeratoma corporis diffusum, is an inborn error of metabolism characterized by the accumulation of glycosphingolipids in lysosomes of endothelial, perithelial, and smooth-muscle cells.1 The typical skin lesions found are angiokeratomas.Herein we present a case of angiokeratoma corporis diffusum that was notable for the presence of marked linear perioral telangiectases; lesions not previously described in association with this disease.
Report of a Case.—
A 40-year-old white man was admitted to rule out Fabry's disease, because of rising serum urea nitrogen and serum creatinine levels. Family history was notable for a brother with Fabry's disease.Cutaneous examination was remarkable for angiokeratomas confined to the scrotum (Fig 1) and for multiple marked perioral telangiectases (Fig 2). These telangiectases were located both above and below the mouth and appeared to extend outward in a radial fashion. The lesions on the upper lip extended from
Chesser RS, Gentry RH, Fitzpatrick JE, Harrington AC. Perioral Telangiectases: A New Cutaneous Finding in Fabry's Disease. Arch Dermatol. 1990;126(12):1655-1656. doi:10.1001/archderm.1990.01670360123032