Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion

Br J Dermatol. 2004 Mar;150(3):575-7. doi: 10.1046/j.1365-2133.2004.05813.x.


Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented.

Publication types

  • Case Reports

MeSH terms

  • Angiokeratoma / diagnosis*
  • Angiokeratoma / pathology
  • Biopsy
  • Diagnosis, Differential
  • Diagnostic Errors*
  • Fabry Disease / diagnosis*
  • Fabry Disease / pathology
  • Hemangioma / diagnosis*
  • Hemangioma / pathology
  • Humans
  • Male
  • Middle Aged
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / pathology