晚发胫前隐性营养不良型大疱性表皮松解症1例及基因检测

doi:10.35541/cjd.20220410

中华皮肤科杂志 ›› 2024, e20220410.doi: 10.35541/cjd.20220410

晚发胫前隐性营养不良型大疱性表皮松解症1例及基因检测

徐楚乔赵肖庆权晟施若非郑捷潘萌

上海交通大学医学院附属瑞金医院皮肤科，上海 200025

收稿日期:2022-06-09 修回日期:2023-11-30 发布日期:2024-05-30
通讯作者: 潘萌 E-mail:pm10633@rjh.com.cn

Late-onset pretibial recessive dystrophic epidermolysis bullosa: a case report and mutation analysis

Xu Chuqiao, Zhao Xiaoqing, Quan Sheng, Shi Ruofei, Zheng Jie, Pan Meng

Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2022-06-09 Revised:2023-11-30 Published:2024-05-30
Contact: Pan Meng E-mail:pm10633@rjh.com.cn

摘要/Abstract

摘要： 患者女，51岁，因双小腿反复水疱红斑1年于2021年9月就诊。患者1年前无明显诱因反复出现双小腿水疱，伴红斑及瘙痒，气温高时瘙痒加重，自行挑破水疱后可结痂愈合，疱液呈黄色、较澄清。既往体健，否认糖尿病等慢性病史，否认用药史、局部接触史，家中无类似患者……

徐楚乔赵肖庆权晟施若非郑捷潘萌. 晚发胫前隐性营养不良型大疱性表皮松解症1例及基因检测[J]. 中华皮肤科杂志, 2024,e20220410. doi:10.35541/cjd.20220410

Xu Chuqiao, Zhao Xiaoqing, Quan Sheng, Shi Ruofei, Zheng Jie, Pan Meng. Late-onset pretibial recessive dystrophic epidermolysis bullosa: a case report and mutation analysis[J]. Chinese Journal of Dermatology,2024,e20220410. doi:10.35541/cjd.20220410

参考文献 7

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［6］	Oh SW, Lee JS, Kim MY, et al. COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa［J］. Br J Dermatol, 2007,157（6）:1260⁃1264. doi: 10.1111/j.1365⁃2133. 2007.08191.x.
［7］	鲍迎秋, 张艳君, 李博, 等. 隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展［J］. 中华皮肤科杂志, 2022,55（8）:739⁃743. doi: 10.35541/cjd.20210499.

晚发胫前隐性营养不良型大疱性表皮松解症1例及基因检测

Late-onset pretibial recessive dystrophic epidermolysis bullosa: a case report and mutation analysis

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