先天性红细胞生成性卟啉病1例

A case of congenital erythropoietic porphyria

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.