| pubmed-article:10705121 | pubmed:abstractText | 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. | lld:pubmed |
