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Dermatol Online J. 2005 Dec 30;11(4):8.

Angiokeratoma corporis diffusum (Fabry disease).

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Department of Dermatology, New York University School of Medicine, USA.


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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