Congenital erythropoietic porphyria
Authors:
- Wen-Hao LeeWLWen-Hao Lee
- Wei-Chun TaiWTWei-Chun Tai
- Po-Yuan WuPWPo-Yuan Wu
Open Access
- 1 June 2012
- journal article
- Published by Medknow in Dermatologica Sinica
- Vol. 30 (2) , 62-65
Abstract
Congenital erythropoietic porphyria (CEP), or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III 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 CEPKeywords
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