Congenital erythropoietic porphyria

被引：5
|
作者：
Lee, Wen-Hao [1 ]
Tai, Wei-Chun [1 ]
Wu, Po-Yuan [1 ,2 ]
机构：
[1] China Med Univ Hosp, Dept Dermatol, Taichung, Taiwan
[2] China Med Univ, Dept Dermatol, Taichung, Taiwan
来源：
DERMATOLOGICA SINICA | 2012年 / 30卷 / 02期
关键词：
congenital erythropoietic porphyria; Gunther disease; BONE-MARROW-TRANSPLANTATION; STEM-CELL TRANSPLANTATION; GUNTHERS-DISEASE; ORAL CHARCOAL; GENE;
D O I：
10.1016/j.dsi.2011.09.012
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Congenital erythropoietic porphyria (CEP), or "Gunther disease", is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen Ill synthase (URO-III-synthase), the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood's lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC) and a porphyrin profile compatible with CEP. Copyright (C) 2012, Taiwanese Dermatological Association. Published by Elsevier Taiwan LLC. All rights reserved.
引用
收藏
页码：62 / 65
页数：4
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