Fabry disease: A case report and algorithmic approach to angiokeratomas

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

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.48, ss.97-100, 2014 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/turkderm.48.s25
  • Dergi Adı: TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.97-100
  • Anahtar Kelimeler: Fabry disease, angiokeratoma, globotriaosylceramide, ALPHA-GALACTOSIDASE, MUTATION, MANIFESTATIONS, DIAGNOSIS, WOMEN
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.