|
KMID : 0363220140520090642
|
|
Korean Journal of Dermatology
2014 Volume.52 No. 9 p.642 ~ p.645
|
|
|
A Case of Incontinentia Pigmenti in a Boy with Klinefelter Syndrome
|
|
Hwang Eun-Jung
Park Gyeong-Yul
Min Seong-Uk
Cho Kwang-Hyun
|
|
|
Abstract
|
|
|
|
Incontinentia pigmenti (IP) is an uncommon X-linked, dominantly inherited disorder due to a mutation in the NEMO(NF-κB 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.
|
|
|
KEYWORD
|
|
|
Incontinentia pigmenti, Klinefelter syndrome, Male, NEMO
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|