IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.

IKBKGMutationWith Incontinentia Pigmenti and Ring-Enhancing Encephalopathy Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linkeddominantgenodermatosis affectingskinandotherorgans, including the brain, with variable expressivity. Incontinentia pigmenti results frommutations in the inhibitor of κ-βkinase-γ gene (IKBKG),which is locatedonXq28.Deletions in this gene result in loss of function, leading to a wide variety of manifestations.1 This mutation is often lethal in males, resulting inmiscarriageofmale fetuses. Previouslyproposed revised diagnostic criteria2 included as major criteria any of 4 types of IP skin lesions and several minor criteria including anomalies of thebrain, eyes, oral cavity, breasts, nipples, hair, andnails ina typical contextofmultiplemalemiscarriagesand characteristic skin histopathology findings.