先天性角化不良1例及家系  

Dyskeratosis Congenita: A Report of A Family

作　　者：陈瑞[1,2] 晏洪波[1] 马利尔[1] 罗颖[1] 杨欣[1,2] 

机构地区：[1]广州军区武汉总医院皮肤科.湖北武汉430070 [2]湖北中医药大学.湖北武汉430065

出　　处：《中国皮肤性病学杂志》2014年第11期1151-1153,共3页The Chinese Journal of Dermatovenereology

摘　　要：先证者男,33岁,具有临床三联征:全身皮肤网状色素沉着,甲营养不良和口腔黏膜白斑。先证者哥哥及表哥均出现相似临床症状。先证者实验室检查示血液系统的异常改变。先证者颈部皮肤色素沉着区皮损活检示:表皮轻度角化,基底细胞液化变性,真皮上部见较多嗜黑素细胞。诊断:先天性角化不良。A case of （lyskeratosis c（mgenita （DKC） is reported and the family pedigree is also analyzed. The prol）and was a 33-vear-old male presented with the characteristic clinical triad of reticulated pigmentation of the skin, dystrophic nails anti oral leukoplakia. Both his elder brother and a cousin displayed similar clinical symptoms. Results of proband＇s hematologic tests were abnormal. Skin biopsy specimen from hyperpigmented areas of neck showed slight epidermal hyperkeratosis, liquefaction degeneration of the basal cells,and melanophages in the superficial dermis.

关 键 词：角化不良 遗传性皮肤病 家系调查 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]