An atypical case of incontinentia pigmenti with a hypomorphic variant |
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| Authors: | Youming Guo BS Wenbo Bu MD Weixue Jia MD Yuanyuan Zhang MD Chengrang Li MD |
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| Affiliation: | Department of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China |
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| Abstract: | ![]()
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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| Keywords: | genetic disease hypomorphic mutation incontinentia pigmenti rare disease |
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