A Genetic Study in a Patient with Incontinentia Pigmenti.
- Author:
Myo Jing KIM
1
;
Ki Yeol LEE
;
Chang Seok KI
;
Ki Hoon SONG
;
Young Hun KIM
Author Information
1. Department of Dermatology, College of Medicine, Dong-A University, Busan, Korea. mucca@dau.ac.kr
- Publication Type:Case Report
- Keywords:
Incontinentia pigmenti;
NEMO gene
- MeSH:
Exons;
Eye;
Female;
Gene Rearrangement;
Hair;
Humans;
Incontinentia Pigmenti;
Infant;
Musculoskeletal System;
Nails;
NF-kappa B;
Parents;
Republic of Korea;
Tooth
- From:Korean Journal of Dermatology
2011;49(2):164-168
- CountryRepublic of Korea
- Language:Korean
-
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.
