Abstract:Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked
manner. It is characterized by the deficiency of the enzyme alpha-galactosidase,
leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of
the cutaneous manifestations of this condition, and it helps making the
diagnosis. The typical site involves the genital area in men and lumbosacral,
buttocks and trunk region in both sexes. We report a case of genital
angiokeratoma in a woman with Fabry disease. The diagnosi… Show more
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