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KMID : 0363220110490020164
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Korean Journal of Dermatology
2011 Volume.49 No. 2 p.164 ~ p.168
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A Genetic Study in a Patient with Incontinentia Pigmenti
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Kim Myo-Jing
Lee Ki-Yeol
Ki Chang-Seok
Song Ki-Hoon
Kim Young-Hun
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Abstract
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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-κB-Essential MOdulator) gene, also known as the IKKγ (gamma-subunit of the inhibitor κB kinase), which is essential for the activation of the NF-κB 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.
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KEYWORD
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Incontinentia pigmenti, NEMO gene
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