A Case of Incontinentia Pigmenti in a Boy with Klinefelter Syndrome.
- Author:
Eun Jung HWANG
1
;
Gyeong Yul PARK
;
Seong Uk MIN
;
Kwang Hyun CHO
Author Information
1. Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea. khcho@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Incontinentia pigmenti;
Klinefelter syndrome;
Male;
NEMO
- MeSH:
Adolescent;
Female;
Humans;
Incontinentia Pigmenti*;
Infant;
Klinefelter Syndrome*;
Leg;
Male;
Mosaicism;
X Chromosome
- From:Korean Journal of Dermatology
2014;52(9):642-645
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Incontinentia pigmenti (IP) is an uncommon X-linked, dominantly inherited disorder due to a mutation in the NEMO (NF-kappaB essential modulator) gene on the X chromosome. IP mostly occurs in female infants, it is usually embryonic lethal in males. The mechanisms for survival of affected males are explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We report here a rare case of incontinentia pigmenti in a 13-year-old boy with Klinefelter's syndrome, NEMO gene mutation, and whorled, hyperkeratotic, hyperpigmented, linear lesions along the lines of Blaschko on the trunk and leg.
