title: Gorlin's syndrome. Case report.
abstract: Gorlin's syndrome (GS) is a hereditary dominant autosomal disease linked to a gene which has a strong discerning and an extremely variable expressiveness. It is an ecto-mesodermic polydysplasia generally characterized by multiple nevoid basal-cell carcinomas, palmo-plantar pits, cysts of cutis and long bones, intracranial ectopic calcification; less frequently it is accompanied by tumors of other organs such as the ovaries, and by brain, neurological and ocular defects. Chalazions and squinting are the most typical ocular complications. We describe a patient with GS detected at an ophthalmology consultancy during which by chance we found multiple peripheral retinal breaks with a partial retinal detachment and retinoschisis.
authors.affiliation: Department of Ophthalmology, University of Udine, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Salati
authors.forename: G
authors.initials: G
authors.lastname: Virgili
authors.forename: U
authors.initials: U
authors.lastname: Menchini
authors.forename: A
authors.initials: A
authors.lastname: Frattasio
authors.forename: G
authors.initials: G
authors.lastname: Patrone
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis; D012167:Retinal Perforations / Q000175:diagnosis / Q000209:etiology