脑颜面皮肤脂肪瘤病（菲什曼综合征）：一种罕见的神经皮肤综合征。
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome.
作者信息
Sharifi Mohammad, Namdari Maral
机构信息
Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
出版信息
J Curr Ophthalmol. 2016 Jul 15;28(3):155-8. doi: 10.1016/j.joco.2016.06.004. eCollection 2016 Sep.
PURPOSE
To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement.
METHODS
A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities.
RESULTS
The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL.
CONCLUSION
Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.
目的
报告一例罕见的脑颅皮肤脂肪瘤病（ECCL），伴有特征性的多器官受累。
方法
一名7天大的伊朗白人女孩因眼部、皮肤和脑部异常前来就诊。
结果
浅表脂肪瘤样痣、眼睑迷离瘤和颅内脂肪瘤的表现符合脑颅皮肤脂肪瘤病。
结论
由于皮肤和眼部表现可在出生检查时轻易观察到，儿科医生和眼科医生应了解这种疾病。
Zotero 插件