念珠状发四例  

Monilethrix: four cases report

作　　者：朱晨雨[1] 刘洁[1] 付兰芹[1] 李军[1] 晋红中[1] 

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院皮肤科,北京100730

出　　处：《中国麻风皮肤病杂志》2017年第5期290-292,共3页China Journal of Leprosy and Skin Diseases

基　　金：米尔斯坦亚美医学基金会皮肤病研究基金;国家人力资源和社会保障部留学人员科技活动项目择优资助项目

摘　　要：念珠状发是一种常染色体显性遗传性皮肤病,以毛干和毛囊结构异常为特征。本文报道4例,均表现为头发易折断,生长缓慢,其中3例有家族史。4例患者皮肤镜检查均可见梭形膨大和明显缩窄交替出现的典型念珠状改变。有2例患者进行了KRT86基因检测,分别检测到c.1204G>A和c.1237G>A的突变。Monilethrix is an autosomal dominant genodermatosis with hair shafts and hair follicles abnormal. We reported 4 cases with monilethrix and all presented with hair fragility, keratosis pilaris and poor growth. Out of 4 patients, 3 had family histories of monilethrix. Dermoscopy of the hair shaft showed elliptical nodes separated by narrower internodes in all patients. Mutations of c. 1204G〉A and c. 1237G〉A in KRT86 gene were detected in the two patients respectively.

关 键 词：念珠状发 KRT86基因 皮肤镜 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]