title: [Gorlin-Goltz phacomatosis: ophthalmological aspects in one case].
abstract: 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.
authors.affiliation: Service d'Ophtalmologie A, Hôpital des spécialités, BP 6367 Rabat, Maroc.
authors.forename: N
authors.initials: N
authors.lastname: Boutimzine
authors.forename: A
authors.initials: A
authors.lastname: Laghmari
authors.forename: H
authors.initials: H
authors.lastname: Karib
authors.forename: M
authors.initials: M
authors.lastname: Karmane
authors.forename: M
authors.initials: M
authors.lastname: Bencherif
authors.forename: A
authors.initials: A
authors.lastname: Albouzidi
authors.forename: O
authors.initials: O
authors.lastname: Cherkaoui
authors.forename: Z
authors.initials: Z
authors.lastname: Mohcine
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005142:Eyelid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005143:Eyelids / Q000473:pathology; D005260:Female; D006801:Humans; D010375:Pedigree; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology