Angiokeratoma corporis diffusum (Fabry disease).

Abstract

A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs. The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.

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@article{Karen2005AngiokeratomaCD, title={Angiokeratoma corporis diffusum (Fabry disease).}, author={Julie K Karen and Elizabeth K Hale and Linglei Ma}, journal={Dermatology online journal}, year={2005}, volume={11 4}, pages={8} }