经外显子组测序确诊一例伴斑点状色素沉着的单纯型大疱性表皮松解症

doi:10.35541/cjd.20190943

中华皮肤科杂志 ›› 2021, Vol. 54 ›› Issue (5): 441-442.doi: 10.35541/cjd.20190943

经外显子组测序确诊一例伴斑点状色素沉着的单纯型大疱性表皮松解症

陈志明杨勇

中国医学科学院、北京协和医学院皮肤病医院遗传病中心，南京 210042

收稿日期:2019-09-29 修回日期:2020-04-15 发布日期:2021-04-29
通讯作者: 杨勇 E-mail:yyang@pumcderm.cams.cn
基金资助:
国家自然科学基金（81903195）；中国医学科学院医学与健康科技创新工程项目（2018-I2M-3-006）

A case of epidermolysis bullosa simplex with mottled pigmentation confirmed by whole-exome sequencing

Chen Zhiming, Yang Yong

Genetic Skin Disease Center, Hospital of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China

Received:2019-09-29 Revised:2020-04-15 Published:2021-04-29
Contact: Yang Yong E-mail:yyang@pumcderm.cams.cn
Supported by:
National Natural Science Foundation of China （81903195）; CAMS Innovation Fund for Medical Sciences （2018-I2M-3-006）

摘要/Abstract

摘要： 先证者，女，26岁， 1岁开始于四肢出现色素沉着伴色素减退斑，皮疹逐渐明显，受累面积逐渐扩大，成年时泛发至全身，于2岁开始出现掌跖角化。先证者母亲及姐姐亦有色素异常及掌跖角化症状，父亲无类似症状。体检：一般情况好，发育正常，各系统均未见异常……

陈志明杨勇. 经外显子组测序确诊一例伴斑点状色素沉着的单纯型大疱性表皮松解症[J]. 中华皮肤科杂志, 2021,54(5):441-442. doi:10.35541/cjd.20190943

Chen Zhiming, Yang Yong . A case of epidermolysis bullosa simplex with mottled pigmentation confirmed by whole-exome sequencing[J]. Chinese Journal of Dermatology, 2021, 54(5): 441-442.doi:10.35541/cjd.20190943

参考文献 6

［1］	Echeverría⁃García B, Vicente A, Hernández Á, et al. Epidermolysis bullosa simplex with mottled pigmentation: a family report and review［J］. Pediatr Dermatol, 2013,30（6）:e125⁃e131. doi: 10.1111/j.1525⁃1470.2012.01748.x.
［2］	Okamura K, Fukushima S, Yamashita J, et al. Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5［J］. J Dermatol, 2019,46（7）:e233⁃e235. doi: 10.1111/1346⁃8138.14788.
［3］	Irvine AD, Rugg EL, Lane EB, et al. Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation［J］. Br J Dermatol, 2001,144（1）:40⁃45. doi: 10.1046/j.1365⁃2133.2001.03950.x.
［4］	Geller L, Kristal L, Morel KD. Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy［J］. Pediatr Dermatol, 2013,30（5）:631⁃632. doi: 10.1111/pde.12206.
［5］	Arin MJ, Grimberg G, Schumann H, et al. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype［J］. Br J Dermatol, 2010,162（6）:1365⁃1369. doi: 10.1111/j.1365⁃2133.2010.09657.x.
［6］	乌云, 林志淼. 伴斑点状色素沉着的单纯型大疱性表皮松解症一家系基因突变分析［J］. 中国皮肤性病学杂志, 2016,30（2）:111⁃113,135. doi: 10.13735/j.cjdv.1001⁃7089.201508057.

经外显子组测序确诊一例伴斑点状色素沉着的单纯型大疱性表皮松解症

A case of epidermolysis bullosa simplex with mottled pigmentation confirmed by whole-exome sequencing

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