A Case of Incontinentia Pigmenti in a Boy with Klinefelter Syndrome / 대한피부과학회지
Korean Journal of Dermatology
;
: 642-645, 2014.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomo X
/
Incontinência Pigmentar
/
Síndrome de Klinefelter
/
Perna (Membro)
/
Mosaicismo
Limite:
Adolescente
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
2014
Tipo de documento:
Artigo
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