先天性角化不良  

A case of dyskeratosis congenita

作　　者：乔瑞 马一平[1] 陈志明[1] 姜祎群[1] QIAO Rui;MA Yi-ping;CHEN Zhi-ming;JIANG Yi-qun(Institute of Dermatology,Chinese Academy of Medical Sciences&Peking Union Medical College,Nanjing 210042,China)

机构地区：[1]中国医学科学院北京协和医学院皮肤病研究所,江苏南京210042

出　　处：《临床皮肤科杂志》2022年第8期459-461,共3页Journal of Clinical Dermatology

基　　金：南京市国家级临床医学中心培育计划(2019060001)资助项目。

摘　　要：先天性角化不良是一种遗传性短端粒疾病,典型表现为皮肤黏膜三联征,常并发骨髓衰竭、其他系统异常以及恶性肿瘤。本文报告了1例19岁诊断为先天性角化不良的男性患者,全外显子组测序证实存在TINF2基因突变。Dyskeratosis congenita is an inherited short telomere disease characterized by the classical mucocutaneous triad,with increased susceptibility to bone marrow failure,other physical abnormalities and solid tumors.We report a 19-year-old male diagnosed with dyskeratosis congenita.A heterozygous mutation located in the TINF2 gene was detected by whole exome sequencing.

关 键 词：先天性角化不良 皮肤黏膜三联征 TINF2基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]