先天性红细胞生成性卟啉病1例  

A case of congenital erythropoietic porphyria

作　　者：沈征宇 廖康煌 

机构地区：[1]复旦大学附属华山医院皮肤科,上海200040

出　　处：《临床皮肤科杂志》2003年第12期718-719,共2页Journal of Clinical Dermatology

摘　　要：患儿男,8岁。面颈部、双手反复出现水疱伴尿色发红7年余。面容呈老态,面部毳毛粗长,牙齿棕色Wood灯下有粉红色荧光,指端毁形,暴露部位有较多萎缩性瘢痕。尿卟啉定性+++,血卟啉定性++。诊断为先天性红细胞生成性卟啉病。Here we report an 8-year-old male patient with erythema and blisters on the face, neck and hands with red urine for more than 7 years. He had an old facial appearance, hypertrichosis, erythrodontia (demonstrated by pink fluorescence when exposed to a Wood's light), cutaneous scarring, deformities of extremity end and the increased level of uroporphyrin which confirmed the diagnosis of congenital erythropoietic porphyria.

关 键 词：红细胞生成性卟啉病 先天性 

分 类 号：R589.8[医药卫生—内分泌]