title: Basal cell nevus syndrome. Presentation of six cases and literature review.
abstract: Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented.
authors.affiliation: Servicio de Estomatología, Hospital General Universitario de Valencia, Valencia. jomadife_cmf@eresmas.com
authors.forename: José María
authors.initials: JM
authors.lastname: Díaz-Fernández
authors.forename: Pedro
authors.initials: P
authors.lastname: Infante-Cossío
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Belmonte-Caro
authors.forename: Luis
authors.initials: L
authors.lastname: Ruiz-Laza
authors.forename: Alberto
authors.initials: A
authors.lastname: García-Perla-García
authors.forename: José Luis
authors.initials: JL
authors.lastname: Gutiérrez-Pérez
mesh_terms: D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000473:pathology*; D005153:Facial Neoplasms / Q000209:etiology / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D007570:Jaw Cysts / Q000209:etiology / Q000473:pathology / Q000601:surgery; D007633:Keratins; D008297:Male; D012878:Skin Neoplasms / Q000209:etiology / Q000473:pathology / Q000601:surgery
chemical_list: D007633:Keratins