The most recognizable clinical feature of Fabry disease is angiokeratomas. These dark red or purple skin lesions (ranging in size from a 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, and may become larger and more numerous with age. Angiokeratomas are almost universal in male hemizygotes; they occur in approximately 30% of heterozygous females.1-2

Angiokeratomas in Fabry disease

Characteristic dark red to blue-black angiectases are typically found between the thigh (left) and umbilicus (right) regions (“bathing suit distribution”). The range in size from a pinpoint to several millimeters. Used with permission from R.J. Desnick, MD, Phd.

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1. Desnick RJ, YA Ioannou, CM Eng. α-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.