An atypical case of incontinentia pigmenti with a hypomorphic variant

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.

Automated summary

Incontinentia pigmenti (IP) is a rare genetic skin disorder that affects multiple areas of the body. We present the case of a female patient with mild IP caused by a gene mutation. This is the first report of a female patient with this mutation.