안구증상을 동반한 Ectrodactyly - Ectodermal Dysplasia - Clefting(EEC) 증후군 1례

• 영문명: Ectrodactyly - Ectodermal Dysplasia - Clefting(EEC) Syndrome with Ocular Defects and Nevus Lipomatosus Cutaneous Superficialis
• 발행기관: 대한소아신경학회
• 저자명: 이승민(Seung Min Lee) 채규영(Kyu Young Chae)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제9권 제1호, 159~163쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2001.05.20

국문 초록

EEC 증후군의 전형적인 임상 증상과 함께 안구 자기공명영상을 통해 특이한 안구증상인 양쪽의 낭과 시신경 형성부전이 있음을 확인하였으며, 피부생검상 nevus lipomatosus cutaneous superficialis가 동반되었음을 확진하여 보고하는 바이다.

영문 초록

The ectrodactyly-ectodermal dysplasia-clefting(EEC) syndrome is a rare autosomal dominant disease which has multiple congenital anomalies characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate, and lacrimal duct anomalies. There is wide variability of clinical ezpression of this syndrome, and occasional nonpenetrance. We report a 1 year old girl with typical EEC syndrome manifestations, who presented dry skin, light colored sparse hair on scalp, cleft lip and palate, microdontia with oligodontia, partial syndactyly of the hands, total syndactyly of the feet and mild developmental delay, including ocular defects and skin lesions. Ocular MRI Showed microphthalmia with cystic mass on both eye globes and atrophy of the optic nerves. Vesicle like skin lesions were consistent with nevus lipomatosus cutaneous superficialis by pathologic study.

키워드

Ectrodactyly ectodermal dysplasia cleft lip and palate Ocular defects Neuvs lipomatosus cutaneous superficialis