A Case of Incontinentia Pigmenti in a Boy with Klinefelter Syndrome / 대한피부과학회지
Korean Journal of Dermatology
;
: 642-645, 2014.
Article
in Korean
| WPRIM
| ID: wpr-170791
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
X Chromosome
/
Incontinentia Pigmenti
/
Klinefelter Syndrome
/
Leg
/
Mosaicism
Limits:
Adolescent
/
Female
/
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
2014
Type:
Article
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