A Case of Incontinentia Pigmenti with Multiple Brain Infarction
Neonatal Medicine
;
: 228-232, 2013.
Artículo
en Coreano
| WPRIM
| ID: wpr-180994
ABSTRACT
Incontinentia pigmenti (IP) is a rare X-linked dominant disease that is typically lethal to males and usually affect female patients. IP is a neurocutaneous disorder, involving the ectodermal tissues such as the skin, eyes, teeth, hair, and central nervous system. The pathogenesis of IP is linked to the gene mutation in the NF-kappa B essential modulator (NEMO) on chromosome Xq28. We experienced one case of newborn with multiple vesiculobullous skin lesions over the entire body after birth. Skin biopsy and histologic studies revealed suspected IP stage I and the genetic analysis of the NEMO confirmed IP diagnosis. A brain MRI showed multiple cerebral infarctions and the infant has shown delayed development in follow-up clinic.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Piel
/
Diente
/
Biopsia
/
Incontinencia Pigmentaria
/
Encéfalo
/
Sistema Nervioso Central
/
Infarto Cerebral
/
Estudios de Seguimiento
/
FN-kappa B
/
Infarto Encefálico
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
Idioma:
Coreano
Revista:
Neonatal Medicine
Año:
2013
Tipo del documento:
Artículo
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