Fabry disease: A case report and algorithmic approach to angiokeratomas

被引：1
|
作者：
Cerman, Asli Aksu [1 ]
Arici, Janset Erkul [1 ]
Altunay, Ilknur Kivanc [1 ]
Demirkesen, Cuyan [2 ]
Kucukunal, Nihal Asli [1 ]
机构：
[1] Sisli Etfal Egitim & Arastirma Hastanesi, Dermatol Klin, Istanbul, Turkey
[2] Istanbul Univ, Cerrahpasa Tip Fak, Patol Anabilim Dali, Istanbul, Turkey
来源：
TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY | 2014年 / 48卷
关键词：
Fabry disease; angiokeratoma; globotriaosylceramide; ALPHA-GALACTOSIDASE; MUTATION; MANIFESTATIONS; DIAGNOSIS; WOMEN;
D O I：
10.4274/turkderm.48.s25
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
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.
引用
收藏
页码：97 / 100
页数：4
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