掌跖角化症1家系TRPV3基因突变报告

doi:10.35541/cjd.20220075

中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (3): 258-259.doi: 10.35541/cjd.20220075

掌跖角化症1家系TRPV3基因突变报告

周欣,徐霞,陈荃,田歆

广州市皮肤病防治所皮肤科，广州 510095

收稿日期:2022-01-28 修回日期:2023-04-06 发布日期:2025-03-07
通讯作者: 周欣 E-mail:rain0504@sina.com
基金资助:
广州市基础研究计划项目（SL2022A03J01447）

A mutation in the TRPV3 gene in a family with palmoplantar keratosis

Zhou Xin, Xu Xia, Chen Quan, Tian Xin

Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou 510095, China

Received:2022-01-28 Revised:2023-04-06 Published:2025-03-07
Contact: Zhou Xin E-mail:rain0504@sina.com
Supported by:
Guangzhou Basic Research Plan Program（SL2022A03J01447）

摘要/Abstract

摘要： 先证者男，8岁，因手足角化，躯干和四肢弥漫性角化性斑块伴红斑8年就诊。患者出生4个月后双手掌及双足底出现约钱币大小红色角化性斑块，无明显自觉症状，未予处理……

周欣徐霞陈荃田歆. 掌跖角化症1家系TRPV3基因突变报告[J]. 中华皮肤科杂志, 2025,58(3):258-259. doi:10.35541/cjd.20220075

Zhou Xin, Xu Xia, Chen Quan, Tian Xin. A mutation in the TRPV3 gene in a family with palmoplantar keratosis[J]. Chinese Journal of Dermatology, 2025, 58(3): 258-259.doi:10.35541/cjd.20220075

参考文献 9

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［6］	朱学骏, 王宝玺, 孙建方, 等. 皮肤病学［M］. 4版. 北京: 北京大学医学出版社, 2019:1025⁃1026.
［7］	Zhong W, Hu L, Cao X, et al. Genotype⁃phenotype correlation of TRPV3⁃related Olmsted syndrome［J］. J Invest Dermatol, 2021,141（3）:545⁃554. doi: 10.1016/j.jid.2020.06.035.
［8］	Ni C, Yan M, Zhang J, et al. A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome［J］. Sci Rep, 2016,6:21815. doi: 10.1038/srep21815.
［9］	Wilson NJ, Cole C, Milstone LM, et al. Expanding the phenotypic spectrum of Olmsted syndrome［J］. J Invest Dermatol, 2015,135（11）:2879⁃2883. doi: 10.1038/jid.2015.217.

掌跖角化症1家系TRPV3基因突变报告

A mutation in the TRPV3 gene in a family with palmoplantar keratosis

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