Gorlin-Goltz phacomatosis: ophthalmological aspects in one case

We report the case of a 21-year-old girl who presented an eylid tumor with retinal hamartoma. General examination revealed a basal cell nevus on the f ace, jaw cysts, skeletal malformations and brain calcifications. Histologic al examination of the eyelid lesion and of the skin nevus showed basal cell carcinoma. Familiar investigation evidenced the hereditary nature of this disease. We review Gorlin-Goltz phakomatosis, an uncommon disease often unrecognized by opthalmologists, and discuss nosological considerations.