A Case of Encephalocraniocutaneous Lipomatosis (ECCL).
- Author:
Sung Ho CHOI
1
;
Ju Yeob KIM
;
Yoon Duck KIM
Author Information
1. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ydkim@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
Encephalocraniocutaneous lipomatosis (ECCL);
Lipodermoid;
Lipoma;
Neurocutaneous syndrome
- MeSH:
Abnormalities, Multiple;
Alopecia;
Angiomatosis;
Brain;
Central Nervous System;
Choristoma;
Coloboma;
Corneal Opacity;
Female;
Humans;
Hypopigmentation;
Infant;
Iris;
Korea;
Lipoma;
Lipomatosis*;
Magnetic Resonance Imaging;
Neurocutaneous Syndromes;
Neuroimaging;
Physical Examination;
Retinal Pigment Epithelium;
Scalp;
Skin
- From:Journal of the Korean Ophthalmological Society
2005;46(5):904-909
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndromes characterized by unilateral scalp and facial lesions and multiple anomalies involving the eye and central nervous system. To our knowledge, this is the first case reported in Korea. METHODS: A 19-month-old girl was referred to our clinic for evaluation of right-sided multiple facial masses and ocular disorders. RESULTS: Physical examination showed large lipomatous masses on the scalp with overlying alopecia. There were also multiple skin tags in the right periocular area and defects of the right lid margin and lateral canthus. Other ocular anomalies included epibulbar lipodermoid, corneal opacity, iris coloboma and localized hypopigmentation of the retinal pigment epithelium. Brain MRI demonstrated multiple abnormalities that were consistent with lipomas and leptomeningeal angiomatosis. We removed the scalp lipoma and the epibulbar lipodermoid and reconstructed the lateral canthus. CONCLUSIONS: In the case of suspected ECCL, it is essential to differentiate from other syndromes which present with epibulbar choristoma. Neuroimaging such as CT or MRI and pathologic study may be helpful.
