A Case of Hypomelanosis of Ito with Hemimegalencephaly
Journal of the Korean Pediatric Society
; : 1137-1141, 2000.
Article
en Ko
| WPRIM
| ID: wpr-154007
Biblioteca responsable:
WPRO
ABSTRACT
Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of streaks, patches and swirling hypopigmentation over variable portions of the body surface. Multiple extracutaneous abnormalities involving the central nervous system, musculoskeletal structures and the eyes occur in over two-thirds of the cases. This report describes a patient with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Chromosomal analysis of fibroblasts of depigmented skin obtained from the patients showed mosaicism.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Piel
/
Sistema Nervioso Central
/
Hipopigmentación
/
Síndromes Neurocutáneos
/
Cerebro
/
Malformaciones del Desarrollo Cortical
/
Fibroblastos
/
Hipertrofia
/
Mosaicismo
Límite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Año:
2000
Tipo del documento:
Article