Incontinentia Pigmenti in a Newborn with NEMO Mutation
Journal of Korean Medical Science
;
: 308-311, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-123272
ABSTRACT
Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappaB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pele
/
Incontinência Pigmentar
/
Encéfalo
/
Análise Mutacional de DNA
/
Povo Asiático
/
Quinase I-kappa B
/
Mutação
Limite:
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2011
Tipo de documento:
Artigo
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