先天性角化不良2例  

Two Cases of Dyskeratosis Congenita

作　　者：王建琴[1] 许剑荣[1] 孙广政[1] 刘衍彬[1] 唐绍生[1] 

机构地区：[1]广州市第一人民医院皮肤科,广东广州510180

出　　处：《中国皮肤性病学杂志》2002年第4期260-262,共3页The Chinese Journal of Dermatovenereology

摘　　要：先天性角化不良是一种罕见的多系统疾病 ,主要累及中胚层和外胚层 ,约 80 %以上的患者发生骨髓衰竭 ,并于早期死亡。报告 2例患者 ,1例为 2 2岁男孩 ,另 1例为 16岁女孩 ,均具有网状色素沉着伴毛细血管扩张及皮肤萎缩、甲营养不良、黏膜白斑等典型临床表现。Dyskeratosis congenita is a rare multi system disease mainly involving mesoblast and ectoderm.We report 2 cases of dyckeratosis congenita,one was a 22 year old boy,another was a 16 year old girl.Both of them presented characteristic clinical symptoms,such as reticular skin pigmentation,nail dystrophy and leukoplakia of mucous membranes,etc.The male patient also accompanied with abnormalities of blood system.

关 键 词：先天性角化不良 临床分析 骨髓衰竭 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]