Fabry Disease - Angiokeratoma

Angiokeratoma are the most visibly recognizable clinical feature of Fabry disease. These dark red or purple skin lesions (ranging in size from pinpoint to several millimeters in diameter) do not blanch with pressure and are usually distributed on the buttocks, groin, umbilicus, and upper thighs (bathing trunk distribution). Lesions generally appear in adolescence or young adulthood. Angiokeratoma are almost universal in male hemizygotes; they occur in approximately 30% of heterozygous females. ^{[1, 2]}

Because angiokeratoma may be concealed by undergarments, their presence can be missed during routine physical examinations.

References
1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774

2. Menkes DL. Images in neurology. The cutaneous stigmata of Fabry disease: an X-linked phakomatosis associated with central and peripheral nervous system dysfunction. Arch Neurol. 1999;56:487.