J Korean Pediatr Soc.  2000 Aug;43(8):1137-1141.

A Case of Hypomelanosis of Ito with Hemimegalencephaly

Affiliations
  • 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

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.

Keyword

Hypomelanosis of Ito; Hemimegalencephaly; Mosaicism

MeSH Terms

Central Nervous System
Cerebrum
Fibroblasts
Humans
Hypertrophy
Hypopigmentation*
Malformations of Cortical Development*
Mosaicism
Neurocutaneous Syndromes
Skin
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