先天性角化不良综合征2例

Dyskeratosis Congenital: Two Cases Report

例1男,16岁。全身弥漫色素沉着、甲萎缩10年,乏力5天,伴口腔黏膜白斑,血常规三系减少。例2男,12岁。全身色素沉着并甲萎缩6年,舌部白色斑块10个月并溢泪8个月,伴智力下降,血常规三系未见异常。均确诊为先天性角化不良综合征。本文对2例患者的临床资料进行总结。

Case 1, A 16-year-old male presented with whole body skin pigmentation and onychatrophy for ten years, and weakness for five days. Oral leukoplakia has been found and three lines of blood routine examination showed declined. Case 2, A 12-year-old male presented with whole body skin pigmentation and onychatrophy for six years, oral leukoplakia for ten months and epiphora for eight months. He also showed mental decline and three lines of blood routine examination were normal. The diagnosis was dyskeratosis congenital（DC）. The clinical data were summarized.