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

doi:10.35541/cjd.20210317

中华皮肤科杂志 ›› 2022, Vol. 55 ›› Issue (8): 727-729.doi: 10.35541/cjd.20210317

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

王雪晴¹ 刘莉娜² 于建斌¹ 李小红¹ 张江安¹ 秦碧波¹

¹郑州大学第一附属医院皮肤科，郑州 450052；²郑州大学第一附属医院遗传与产前诊断中心，郑州 450052

收稿日期:2021-04-21 修回日期:2022-01-06 发布日期:2022-08-02
通讯作者: 于建斌；刘莉娜 E-mail:yjbdoctor@sina.com; liulina5965@163.com
基金资助:
郑州大学遗传性皮肤病研究生联合培养基地建设项目（YJSCXJD201908）

KRT5 gene mutation-induced epidermolysis bullosa simplex with mottled pigmentation in a family

Wang Xueqing¹, Liu Lina², Yu Jianbin¹, Li Xiaohong¹, Zhang Jiang′an¹, Qin Bibo¹

¹Department of Dermatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; ²Center of Hereditary and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

Received:2021-04-21 Revised:2022-01-06 Published:2022-08-02
Contact: Yu Jianbin; Liu Lina E-mail:yjbdoctor@sina.com; liulina5965@163.com
Supported by:
Construction Project of Joint Training Base for Postgraduates in Genetic Skin Diseases of Zhengzhou University（YJSCXJD201908）

摘要/Abstract

摘要： 患儿女，10个月，以受压部位张力性水疱、皱褶部色素沉着9个月余就诊。患儿生后1个月于足缘、肘关节伸侧等受压部位出现张力性水疱，约黄豆大小，水疱可自行消退吸收，不留瘢痕；其后双侧腹股沟、臀部及腋窝渐出现片状色素沉着……

王雪晴刘莉娜于建斌李小红张江安秦碧波. 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

Wang Xueqing, Liu Lina, Yu Jianbin, Li Xiaohong, Zhang Jiang′an, Qin Bibo. KRT5 gene mutation-induced epidermolysis bullosa simplex with mottled pigmentation in a family[J]. Chinese Journal of Dermatology, 2022, 55(8): 727-729.doi:10.35541/cjd.20210317

参考文献 8

［1］	Ferreira FR, Pereira CF, Moretto JC, et al. Sporadic form of epidermolysis bullosa simplex with mottled pigmentation［J］. An Bras Dermatol, 2020,95（4）:536⁃538. doi: 10.1016/j.abd.2019. 08.033.
［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⁃233e235. doi: 10.1111/1346⁃8138. 14788.
［3］	Bchetnia M, Farez T, Lacroix J, et al. Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation［J］. J Dermatol Sci, 2013,69（1）:80⁃82. doi: 10.1016/j.jdermsci.2012. 09.017.
［4］	Horiguchi Y, Sawamura D, Mori R, et al. Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation［J］. J Invest Dermatol, 2005,125（1）:83⁃85. doi: 10.1111/j.0022⁃202X.2005.23790.x.
［5］	Trufant JW, Kreizenbeck GM, Carlson KR, et al. A transient epidermolysis bullosa simplex⁃like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote［J］. J Cutan Pathol, 2010,37（11）:1155⁃1160. doi: 10.1111/j.1600⁃0560.2010.01557.x.
［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］	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.
［8］	Nagai H, Oiso N, Tomida S, et al. Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members［J］. Br J Dermatol, 2016,174（3）:633⁃635. doi: 10.1111/bjd.14083.

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

KRT5 gene mutation-induced epidermolysis bullosa simplex with mottled pigmentation in a family

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