Korean J Dermatol.
2011 Feb;49(2):164-168.
A Genetic Study in a Patient with Incontinentia Pigmenti
- Affiliations
-
- 1Department of Dermatology, College of Medicine, Dong-A University, Busan, Korea. mucca@dau.ac.kr
- 2Department of Pediatrics, College of Medicine, Dong-A University, Busan, Korea.
- 3Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 4ES-Dermatologic Clinics, Seoul, Korea.
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-kappaB-Essential MOdulator) gene, also known as the IKKgamma (gamma-subunit of the inhibitor kappaB kinase), which is essential for the activation of the NF-kappaB 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.
