Korean J Dermatol.  2014 Sep;52(9):642-645.

A Case of Incontinentia Pigmenti in a Boy with Klinefelter Syndrome

• Hwang EJ
• Park GY
• Min SU
• Cho KH

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.

Keyword

Incontinentia pigmenti; Klinefelter syndrome; Male; NEMO

MeSH Terms

Adolescent
Female
Humans
Incontinentia Pigmenti*
Infant
Klinefelter Syndrome*
Leg
Male
Mosaicism
X Chromosome