Fabry disease: A case report and algorithmic approach to angiokeratomas


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Cerman A. A. , Arici J. E. , Altunay I. K. , Demirkesen C. , Kucukunal N. A.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, vol.48, pp.97-100, 2014 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 48
  • Publication Date: 2014
  • Doi Number: 10.4274/turkderm.48.s25
  • Title of Journal : TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Page Numbers: pp.97-100

Abstract

Fabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal a-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body. The presence of diffuse angiokeratomas in Fabry disease is a cutaneous hallmark but it is not a specific one. In this case report, we observed the features of a case of Fabry disease and reviewed the diagnostic approach to angiokeratomas.