An atypical case of incontinentia pigmenti with a hypomorphic variant.

Youming Guo, Wenbo Bu, Weixue Jia, Yuanyuan Zhang, Chengrang Li

Pediatric dermatology 2024 Mar-Apr

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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. © 2023 Wiley Periodicals LLC.

Citation

Youming Guo, Wenbo Bu, Weixue Jia, Yuanyuan Zhang, Chengrang Li. An atypical case of incontinentia pigmenti with a hypomorphic variant. Pediatric dermatology. 2024 Mar-Apr;41(2):351-353