先天性红细胞生成性卟啉病1例  

A Case of Congenital Erythropoietic Porphyria

作　　者：刘元香 徐子刚[1] 

机构地区：[1]首都医科大学附属北京儿童医院皮肤科,北京100045

出　　处：《中国皮肤性病学杂志》2014年第1期70-71,共2页The Chinese Journal of Dermatovenereology

摘　　要：患儿女,6岁。面部、双手反复出现丘疱疹、水疱4年。面容老态、暴露部位较多萎缩性瘢痕,牙齿黄褐色(Wood灯下粉红色荧光),尿液茶色(Wood灯下橘红色)。细胞内锌卟啉4.6μg/gHb,尿卟啉强阳性(2+)。诊断:先天性红细胞生成性卟啉病。A six-year-old girl had developed papular vesicles and blisters on the tace and hands for four years. She had an old facial appearance, cutaneous atrophic scaring, brown teeth （pink fluorescence under the Wood＇s light） , dark brown urine （orange-red fluorescence under the Wood＇s light）. Intracellular zinc porphyrin was 4.6μg/gHb. Urinary porphyrin strong was positive（ 2＋）. The diagnosis of this patient was congenital erythropoi- etic porphyria.

关 键 词：卟啉病 红细胞生成性 

分 类 号：R758.4[医药卫生—皮肤病学与性病学]