| A Case of Hypomelanosis of Ito with Hemimegalencephaly |
|
Sun Ju Lee1, Na Yeon Kim1, Jin Hwa Jeong1, Sung Min Cho1, Sung Tae Park2, Hyon Joo 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 |
| 편측대뇌거대증이 동반된 Ito 저멜라닌증 1례 |
|
이선주1, 김나연1, 정진화1, 조성민1, 박성태2, 김현주3 |
1동국대학교 의과대학 소아과학교실
2동국대학교 의과대학 진단방사선과학교실
3아주대학교 유전학연구소 |
|
|
|
|
| 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:
Hypomelanosis of Ito, Hemimegalencephaly, Mosaicism |
|
PDF Links
Download Citation
