J Korean Pediatr Soc.
2000 Aug;43(8):1137-1141.
A Case of Hypomelanosis of Ito with Hemimegalencephaly
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea.
- 2Department of Diagnostic Radiology, College of Medicine, Dongguk University, Kyongju, Korea.
- 3Genetics Clinic, Ajou University Hospital, Suwon, Korea.
Abstract
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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.