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A Journal on Dentistry and Maxillofacial Surgery

Official Journal of the Italian Society of Odontostomatology and Maxillofacial Surgery
Indexed/Abstracted in: CAB, EMBASE, Index to Dental Literature, PubMed/MEDLINE, Scopus, Emerging Sources Citation Index

Frequency: Bi-Monthly

ISSN 0926-4970

Online ISSN 1827-174X


Minerva Stomatologica 2009 January-February;58(1-2):43-53


Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review

Acocella A. 1, Sacco R. 2, Bertolai R. 1, Sacco N. 3

1 Department of Odontostomathology Division of Maxillo-Facial Surgery Faculty of Medicine University of Florence, Florence, Italy
2 Oral Surgery, University of Sassari, Sassari, Italy
3 Faculty of Medicine University of Naples (SUN), Naples, Italy

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.

language: English, Italian


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