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.
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页码：351 / 353
页数：3
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