Incontinentia pigmenti in a father and daughter

Incontinentia pigmenti (IP) is a rare multi-system X-linked dominant genetic disorder caused by mutations in IKBKG, encoding inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK- γ). Functionally, the encoded IKK- γ protein participates in nuclear factor kappa-light-chain-enhancer of activated B cell (NF-κB) signalling to regulate inflammatory and immune responses and prevent apoptosis. Loss-of-function mutations in IKBKG, as occurs in IP, leave mutant cells vulnerable to apoptosis when exposed to tumour necrosis factor alpha. This article is protected by copyright. All rights reserved.