A Case of Hypomelanosis of Ito with Hemimegalencephaly
Journal of the Korean Pediatric Society
; : 1137-1141, 2000.
Article
in Ko
| WPRIM
| ID: wpr-154007
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Skin
/
Central Nervous System
/
Hypopigmentation
/
Neurocutaneous Syndromes
/
Cerebrum
/
Malformations of Cortical Development
/
Fibroblasts
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Hypertrophy
/
Mosaicism
Limits:
Humans
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
2000
Type:
Article