An atypical case of incontinentia pigmenti with a hypomorphic variant

被引：0

作者：

Guo, Youming ^{[1
]}

Bu, Wenbo ^{[1
]}

Jia, Weixue ^{[1
]}

Zhang, Yuanyuan ^{[1
]}

Li, Chengrang ^{[1
]}

机构：

[1] Chinese Acad Med Sci & Peking Union Med Coll, Inst Dermatol, Dept Dermatol, Jiangsu Key Lab Mol Biol Skin Dis & STIs, Nanjing 210042, Peoples R China

来源：

PEDIATRIC DERMATOLOGY | 2024年 / 41卷 / 02期

关键词：

genetic disease; hypomorphic mutation; incontinentia pigmenti; rare disease; ECTODERMAL DYSPLASIA; IMMUNODEFICIENCY;

D O I：

10.1111/pde.15456

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia with immune deficiency in males.

引用

页码：351 / 353

页数：3

共 5 条

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