MacLaren M J, Kluijt I, Koole F D
Department of Ophthalmology, Academic Hospital of the Free University, Amsterdam, The Netherlands.
Doc Ophthalmol. 1995;90(1):87-98. doi: 10.1007/BF01203299.
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring disorder that belongs to the group of neurocutaneous syndromes. Important characteristics of the case we present are: intracranial lipomas, a skull hamartoma, bilateral lipodermoids and jaw tumors (ossifying fibromas and compound odontomas). We propose four minimal criteria for the diagnosis of ECCL and review the ocular abnormalities reported to date.
脑颅皮肤脂肪瘤病(ECCL)是一种散发性疾病,属于神经皮肤综合征。我们所呈现病例的重要特征为:颅内脂肪瘤、颅骨错构瘤、双侧睑皮样囊肿和颌骨肿瘤(骨化性纤维瘤和复合性牙瘤)。我们提出了四条诊断ECCL的最低标准,并回顾了迄今为止报道的眼部异常情况。