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Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis affecting skin and other organs, including the brain, with variable expressivity. Incontinentia pigmenti results from mutations in the inhibitor of κ-β-kinase-γ gene (IKBKG), which is located on Xq28. 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 in miscarriage of male fetuses. Previously proposed revised diagnostic criteria2 included as major criteria any of 4 types of IP skin lesions and several minor criteria including anomalies of the brain, eyes, oral cavity, breasts, nipples, hair, and nails in a typical context of multiple male miscarriages and characteristic skin histopathology findings.
Eksambe D, Agim N, Uddin N, Gotway G, Pascual JM. IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy. JAMA Neurol. 2015;72(12):1533–1535. doi:https://doi.org/10.1001/jamaneurol.2015.2795
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