Definition:

Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase (GLA) activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. The cutaneous hallmark of FD is a specific distribution of angiokeratoma.Other common symptoms include cornea verticillata, acroparesthesia, and sweating abnormalities.