Fabry disease: A case report and algorithmic approach to angiokeratomas
TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.48, ss.97-100, 2014 (SCI-Expanded, TRDizin)
- 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.