Back issues No.2 - 2012 / Case Report  

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Congenital erythropoietic porphyria
Wen-Hao Lee , Wei-Chun Tai , Po-Yuan Wu
ATOLOGICA SINICA 30 (2012) 62-65

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 CEP.

Keywords: congenital erythropoietic porphyria, Günther disease

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