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Korean J Pediatr 2000 August;43(8) :1137-1141.
A Case of Hypomelanosis of Ito with Hemimegalencephaly
Sun Ju Lee (Lee SJ)1, Na Yeon Kim (Kim NY)1, Jin Hwa Jeong (Jeong JH)1, Sung Min Cho (Cho SM)1, Sung Tae Park (Park ST)2, Hyon Joo Kim (Kim HJ)3
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
Copyright © 2000 by The Korean Pediatric Society
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.
Keywords: Hypomelanosis of Ito | Hemimegalencephaly | Mosaicism
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