全外显子测序诊断伴斑点状色素沉着的单纯型大疱性表皮松解症1例及局限型单纯型大疱性表皮松解症1家系

doi:10.35541/cjd.20220348

中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (3): 260-262.doi: 10.35541/cjd.20220348

全外显子测序诊断伴斑点状色素沉着的单纯型大疱性表皮松解症1例及局限型单纯型大疱性表皮松解症1家系

贾茜,苏敏静,卓纳,李欣,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:2022-05-16 修回日期:2023-04-16 发布日期:2025-03-07
通讯作者: 韩建文 E-mail:hanjianwen1981@hotmail.com
基金资助:
内蒙古科技计划项目（2019GG082）

A case of epidermolysis bullosa simplex with mottled pigmentation and a family with localized epidermolysis bullosa simplex diagnosed by whole-exome sequencing

Jia Qian, Su Minjing, Zhuo Na, Li Xin, Han Jianwen

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

Received:2022-05-16 Revised:2023-04-16 Published:2025-03-07
Contact: Han Jianwen E-mail:hanjianwen1981@hotmail.com
Supported by:
Inner Mongolia Science and Technology Plan Program（2019GG082）

摘要/Abstract

摘要： 例1 男，13岁。6个月时全身出现红色丘疹、小结节，躯干、四肢偶有水疱，手足水疱、大疱，疱壁紧张、疱液澄清，摩擦、受热后易发生，可自行愈合且无瘢痕及粟丘疹形成，遗留点状、灶状角化……

中图分类号:

贾茜苏敏静卓纳李欣韩建文. 全外显子测序诊断伴斑点状色素沉着的单纯型大疱性表皮松解症1例及局限型单纯型大疱性表皮松解症1家系[J]. 中华皮肤科杂志, 2025,58(3):260-262. doi:10.35541/cjd.20220348

Jia Qian, Su Minjing, Zhuo Na, Li Xin, Han Jianwen. A case of epidermolysis bullosa simplex with mottled pigmentation and a family with localized epidermolysis bullosa simplex diagnosed by whole-exome sequencing[J]. Chinese Journal of Dermatology, 2025, 58(3): 260-262.doi:10.35541/cjd.20220348

参考文献 8

［1］	Bardhan A, Bruckner⁃Tuderman L, Chapple ILC, et al. Epidermolysis bullosa［J］. Nat Rev Dis Primers, 2020,6（1）:78. doi: 10.1038/s41572⁃020⁃0210⁃0.
［2］	Rugg EL, Morley SM, Smith FJ, et al. Missing links: Weber⁃Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function［J］. Nat Genet, 1993,5（3）:294⁃300. doi: 10.1038/ng1193⁃294.
［3］	Pascucci M,Posteraro P, Pedicelli C, et al. Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient［J］. Eur J Dermatol, 2006,16（6）:620⁃622. doi:10.1684/ejd.2006.0008.
［4］	Echeverría⁃García B, Vicente A, Hernández Á, et al. Epidermo⁃lysis 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.
［5］	Chen F, Huang L, Li C, et al. Next⁃generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population［J］. Clin Genet, 2020,98（2）:179⁃184. doi: 10.1111/cge.13791.
［6］	Yasukawa K, Sawamura D, Akiyama M, et al. Keratotic lesions in epidermolysis bullosa simplex with mottled pigmentation［J］. J Am Acad Dermatol, 2005,52（1）:172⁃173. doi: 10.1016/j.jaad.2004. 07.046.
［7］	王小坡, 陈志明, 杨勇, 等. KRT5基因新生突变致重度型单纯型大疱性表皮松解症一家系［J］. 中华皮肤科杂志, 2021,54（3）:229⁃231. doi: 10.35541/cjd.20200315.
［8］	王雪晴, 刘莉娜, 于建斌, 等. KRT5基因突变致单纯型大疱性表皮松解症伴斑点状色素沉着1家系［J］. 中华皮肤科杂志, 2022,55（8）:727⁃729. doi: 10.35541/cjd.20210317.

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全外显子测序诊断伴斑点状色素沉着的单纯型大疱性表皮松解症1例及局限型单纯型大疱性表皮松解症1家系

A case of epidermolysis bullosa simplex with mottled pigmentation and a family with localized epidermolysis bullosa simplex diagnosed by whole-exome sequencing

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