[戈林-戈尔茨综合征：一例的眼科表现]
[Gorlin-Goltz phacomatosis: ophthalmological aspects in one case].
作者信息
Boutimzine N, Laghmari A, Karib H, Karmane M, Bencherif M, Albouzidi A, Cherkaoui O, Mohcine Z
机构信息
Service d'Ophtalmologie A, Hôpital des spécialités, BP 6367 Rabat, Maroc.
出版信息
J Fr Ophtalmol. 2000 Feb;23(2):180-6.
We report the case of a 21-year-old girl who presented an eyelid tumor with retinal hamartoma. General examination revealed a basal cell nevus on the face, jaw cysts, skeletal malformations and brain calcifications. Histological examination of the eyelid lesion and of the skin nevus showed basal cell carcinoma. Familial investigation evidenced the hereditary nature of this disease. We review Gorlin-Goltz phakomatosis, an uncommon disease often unrecognized by ophthalmologists, and discuss nosological considerations.
我们报告了一例21岁女孩，她患有眼睑肿瘤并伴有视网膜错构瘤。全身检查发现面部有基底细胞痣、颌囊肿、骨骼畸形和脑钙化。眼睑病变和皮肤痣的组织学检查显示为基底细胞癌。家族调查证实了该疾病的遗传性。我们回顾了戈林-戈尔茨错构瘤病，这是一种眼科医生常常未认识到的罕见疾病，并讨论了疾病分类学方面的问题。
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