Congenital erythropoietic porphyria

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 CEP.

Keywords

• congenital erythropoietic porphyria
• Günther disease