A Case of Hypomelanosis of Ito with Hemimegalencephaly.
- Author:
Sun Ju LEE
1
;
Na Yeon KIM
;
Jin Hwa JEONG
;
Sung Min CHO
;
Sung Tae PARK
;
Hyon Ju KIM
Author Information
1. Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea.
- Publication Type:Case Report
- Keywords:
Hypomelanosis of Ito;
Hemimegalencephaly;
Mosaicism
- MeSH:
Central Nervous System;
Cerebrum;
Fibroblasts;
Humans;
Hypertrophy;
Hypopigmentation*;
Malformations of Cortical Development*;
Mosaicism;
Neurocutaneous Syndromes;
Skin
- From:Journal of the Korean Pediatric Society
2000;43(8):1137-1141
- CountryRepublic of Korea
- Language:Korean
-
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.
