[The Gorlin-Goltz 5th phakomatosis: ophthalmological aspects of a case].
Phakomatoses are congenital diseases characterized by several neoformations affecting tissues originated from ectoderm. The most typical ophthalmic affection is the retinal hamartoma: it can be of angiomatous (Von Hippel-Lindau's Syndrome, Sturge-Weber's Disease) or neuroglioblastic type (Von Recklinghausen's Disease, Bourneville's Disease). In addition to the above-mentioned ones, some include among phakomatoses other diseases such as Louis-Bar's Syndrome, Rendu-Osler's Syndrome and, recently, Gorlin-Goltz's Syndrome. Authors present the case of a young girl, who in addition to the typical G-G's Syndrome osteo-cutaneous features was affected by retinal lesions of hamartomatous type. Photographic documents are displayed.
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis*; D002280:Basal Cell Carcinoma / Q000175:diagnosis*; D005260:Female; D005451:Fluorescein Angiography; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D009378:Neoplasms, Multiple Primary; D012164:Retinal Diseases / Q000175:diagnosis*
Cinquième phacomatose de Gorlin-Goltz: aspect ophtalmologique d'un cas.