Abstract

HILGERT, Rafael; FONSECA, Luiz Afonso Morgenstern da  and  RIBEIRO, Felipe Friedrich. Gorlin's syndrome: report of family involvement. Rev. cir. traumatol. buco-maxilo-fac. [online]. 2010, vol.10, n.3, pp. 039-044. ISSN 1808-5210.

Gorlin's syndrome, also known as nevoid basal cell carcinoma syndrome was first reported by Jarish in 1894 and in 1960 Gorlin and Goltz defined the condition as a major triad of multiple basal cell carcinomas, keratocystic odontogenic tumors and skeletal anomalies. A spectrum of other neurological, ophthalmic, endocrine and genital manifestations are now known to be variably associated with this syndrome. This disorder has an autosomal dominant inheritance with high penetrance and variable phenotypic expression. It is caused by mutations in the patched (PTCH) tumor suppressor gene located on chromosome 9q22.3-q31. This paper reports three cases of the syndrome in the same family, showing the main features and diagnostic criteria of the syndrome, many of which are found in our reports, and also discusses some methods of treatment of the main manifestations.

Keywords : Gorlin-Goltz Syndrome; Odontogenic Tumors; Cryotherapy.