Angiokeratomas

Renal Impact	Cardiac Dysfunction
Cerebrovascular Complications	Pain
Angiokeratomas	Hypohidrosis/Anhidrosis
Ophthalmologic Findings	Heat and Cold Intolerance
Gastrointestinal Manifestations

Angiokeratomas 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. Angiokeratomas are almost universal in male hemizygotes; they occur in approximately 30% of heterozygous females.^[1,2]

Angiokeratomas in the umbilical region

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

For a selected list of articles discussing dermatologic manifestations, click here.

^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.