A genetic study in a patient with incontinentia pigmenti

Abstract

Incontinentia pigmenti (IP) is a rare X-linked dominant, multisystem genodermatosis that affects ectoderm-derived structures. Its cutaneous manifestations are usually subdivided into the vesicular, verrucous, hyperpigmented, and hypopigmented or atrophic stages. IP can also affect other ectoderm-derived structures, such as, hair, nails, teeth, eyes, and the central nervous and musculoskeletal systems. About 80% of IP patients have genomic deletions of exons 4-10 of the NEMO (NF-kκ;B-Essential MOdulator) gene, also known as the IKK? (gamma-subunit of the inhibitor kκ;B kinase), which is essential for the activation of the NF-kκ;B pathway. The female infant presented in this case report was born to healthy non-consanguineous parents and showed vesiculopustular eruptions with a NEMO gene rearrangement. No IP case has been previously reported to be related to a NEMO gene mutation in South Korea. In other words, this is the first report to confirm the relation between IP and mutation of the NEMO gene in Koreans.