条纹状掌跖角化病一家系DSG1基因突变分析

doi:10.35541/cjd.20240209

中华皮肤科杂志 ›› 2024, e20240209.doi: 10.35541/cjd.20240209

条纹状掌跖角化病一家系DSG1基因突变分析

韩宏敏,韩建文

内蒙古医科大学附属医院皮肤性病科，呼和浩特 010050

收稿日期:2024-04-19 修回日期:2024-09-09 发布日期:2024-11-04
通讯作者: 韩建文 E-mail:hanjianwen1981@hotmail.com
基金资助:
国家自然科学基金（82260619）；内蒙古自治区自然科学基金（2022MS08005）；内蒙古医科大学银屑病基础及临床研究创新团队（YKD2022TD030）

Analysis of DSG1 gene mutations in a family with striate palmoplantar keratoderma

Han Hongmin, Han Jianwen

Department of Dermatology and Venereology, the Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, China

Received:2024-04-19 Revised:2024-09-09 Published:2024-11-04
Contact: Han Jianwen E-mail:hanjianwen1981@hotmail.com
Supported by:
National Natural Science Foundation of China （82260619）; Natural Science Foundation of Inner Mongolia （2022MS08005）; Scientific and Technological Innovative Research Team for Inner Mongolia Medical University of “Basic and Clinical Research of Psoriasis” （YKD2022TD030）

摘要/Abstract

摘要： 先证者女，28岁，因掌跖粗糙20余年于2019年8月就诊。先证者出生后手指掌侧即出现灰黄色条纹状角化过度性斑块，皮损可延伸至掌部，跖部为蜡黄色圆形角化过度性斑块，无痛痒，足跟部斑块较厚，裂隙明显，手足背未见皮损……

韩宏敏韩建文. 条纹状掌跖角化病一家系DSG1基因突变分析[J]. 中华皮肤科杂志, 2024,e20240209. doi:10.35541/cjd.20240209

Han Hongmin, Han Jianwen. Analysis of DSG1 gene mutations in a family with striate palmoplantar keratoderma[J]. Chinese Journal of Dermatology,2024,e20240209. doi:10.35541/cjd.20240209

参考文献 8

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［6］	Hunt DM, Rickman L, Whittock NV, et al. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma［J］. Eur J Hum Genet, 2001,9（3）:197⁃203. doi: 10.1038/sj.ejhg.5200605.
［7］	Nomura T, Mizuno O, Miyauchi T, et al. Striate palmoplantar keratoderma: report of a novel DSG1 mutation and atypical clinical manifestations［J］. J Dermatol Sci, 2015, 80（3）:223⁃225. doi: 10.1016/j.jdermsci.2015.10.004.
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条纹状掌跖角化病一家系DSG1基因突变分析

Analysis of DSG1 gene mutations in a family with striate palmoplantar keratoderma

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