All issues > Volume 43(8); 2000

Case Report

J Korean Pediatr Soc. 2000;43(8):1137-1141. Published online August 15, 2000.

A Case of Hypomelanosis of Ito with Hemimegalencephaly

Sun Ju SJ Lee¹, Na Yeon NY Kim¹, Jin Hwa JH Jeong¹, Sung Min SM Cho¹, Sung Tae ST Park², Hyon Joo HJ Kim³

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.

Keywords :Hypomelanosis of Ito, Hemimegalencephaly, Mosaicism