Angiokeratoma: a cutaneous marker of Fabry's disease

Clin Exp Dermatol. 2010 Jul;35(5):505-8. doi: 10.1111/j.1365-2230.2009.03721.x. Epub 2009 Oct 19.

Abstract

The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis. A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29). Three patients were identified. Dermatologists should be aware of this prominent early feature and investigate unexplained cutaneous vascular lesions to detect FD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angiokeratoma / genetics
  • Angiokeratoma / pathology*
  • Biopsy
  • Child
  • Fabry Disease / genetics
  • Fabry Disease / pathology*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Young Adult