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| 念珠状发四例 | |
| 引用本文： | 朱晨雨,刘洁,付兰芹,李军,晋红中. 念珠状发四例[J]. 中国麻风皮肤病杂志, 2017, 0(5): 290-292 |
| 作者姓名： | 朱晨雨 刘洁 付兰芹 李军 晋红中 |
| 作者单位： | 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 |
| 基金项目： | 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.1204GA和c.1237GA的突变。 |
| 关 键 词： | 念珠状发 KRT86基因 皮肤镜 |
Monilethrix: four cases report |
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| ZHU Chenyu,LIU Jie,FU Lanqin,LI Jun,JIN Hongzhong. Monilethrix: four cases report[J]. China Journal of Leprosy and Skin Diseases, 2017, 0(5): 290-292 | |
| Authors: | ZHU Chenyu LIU Jie FU Lanqin LI Jun JIN Hongzhong |
| Abstract: | 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. |
| Keywords: | monilethrix KRT86 gene dermascopy |
| 本文献已被 CNKI 万方数据 等数据库收录！ | |