Describe the skin lesions in Fabry’s disease.

Angiokeratomas are the skin lesions seen in Fabry’s disease. They begin as pinpoint erythematous to purplish macules or flat papules with slight scaling and often start in early childhood with progressive increase in size and number. They are typically distributed in the “bathing suit area,” the area between the waist and the knees. These lesions may be quite subtle. A skin biopsy may aid in establishing the diagnosis because special stains such as Sudan black B, scarlet red, or periodic acid–Schiff may demonstrate glycolipid deposition in the skin. Electron microscopy is frequently used to help establish the diagnosis because it demonstrates characteristic cytoplasmic glycolipid deposits (typically, within endothelial cells). Other findings in patients with Fabry’s disease include acroparesthesias and acute attacks of severe pain, particularly in the palms and soles, often beginning in childhood. In adult life, cardiac ischemia and infarcts, transient ischemic attacks, stroke, and progressive kidney failure may develop. Recently, treatment with enzyme replacement therapy has become available in Europe (α Gal A) and the United States (agalsidase β [Fabrazyme]).