Angiokeratoma corporis diffusum (Fabry disease)

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

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fabry Disease / diagnosis
  • Fabry Disease / pathology*
  • Humans
  • Male
  • Skin / pathology
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / pathology*