Congenital erythropoietic porphyria
Congenital erythropoietic porphyria
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DOI：
10.1016/j.dsi.2011.09.012
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发表时间：
2012-06-01
影响因子：
2.5
通讯作者：
Wu, Po-Yuan
中科院分区：
文献类型：
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作者：
Lee, Wen-Hao;Tai, Wei-Chun;Wu, Po-Yuan
先天性红细胞生成性卟啉症（CEP），或称“冈瑟病”，是卟啉症的一种罕见变体。它是一种常染色体隐性遗传疾病，由血红素生物合成途径中的第四种酶尿卟啉原III合酶（URO-III-synthase）缺陷引起。我们在此报告一例男性的典型临床表现为色素沉着过度和色素减退，在阳光照射区域形成水泡，手指残缺，尿呈深紫色，伍德灯下出现粉红色荧光的红牙。通过红细胞（RBC）中URO-III-合酶活性降低和与CEP相容的卟啉谱证实了诊断。版权所有（C）2012，台湾皮肤医学会.出版社：Elsevier Taiwan LLC All rights reserved.
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.