title: Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review.
abstract: Gorlin-Goltz Syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a well-known disorder with distinctive symptoms, which are studied since the 1960s. This is an hereditary disease, with autosomal dominant trait, characterised by high penetration and variable expressivity. Only recently it has been ascertained that it is caused by the aberration of the long arm of the chromosome 9q22.3, mapped specifically in the area of Patched gene (PTCH). In particular, the PTCH gene is important both for embryonic structuring and cellular cycle, therefore, its mutation represents a key event for the development of the disease. From a clinical point of view, the syndrome requires a multidisciplinary approach meaning that a successful treatment needs the simultaneous co-operation of different specialists. Thus, a correct treatment entails the following steps: an early detection of the disease, an extended family history and a careful evaluation of symptoms. The aim of this article was to highlight the main pathologic and genetic features of Gorlin-Goltz Syndrome, its outbreak frequency and the main characteristics of the population clusters it is more likely to hit. Furthermore, due to the predisposition of the disease to relapse, a constant clinical follow-up combined with a correct treatment are important.
authors.affiliation: Department of Odontostomathology, Division of Maxillo-Facial Surgery, Faculty of Medicine, University of Florence, Florence, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Acocella
authors.forename: R
authors.initials: R
authors.lastname: Sacco
authors.forename: R
authors.initials: R
authors.lastname: Bertolai
authors.forename: N
authors.initials: N
authors.lastname: Sacco
mesh_terms: D000328:Adult; D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000235:genetics / Q000601:surgery; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004388:Dura Mater / Q000000981:diagnostic imaging / Q000473:pathology; D005153:Facial Neoplasms / Q000235:genetics / Q000601:surgery; D005260:Female; D005799:Genes, Dominant; D053823:Hedgehog Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D007571:Jaw Diseases / Q000235:genetics / Q000601:surgery; D019656:Loss of Heterozygosity; D008297:Male; D009807:Odontogenic Cysts / Q000235:genetics / Q000601:surgery; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011859:Radiography; D011956:Receptors, Cell Surface / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction; D014084:Tooth Avulsion / Q000235:genetics / Q000601:surgery
chemical_list: D053823:Hedgehog Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; C509239:SHH protein, human