Síndrome de Gorlin-Goltz: Diagnóstico e Hipóteses de Tratamento

Abstract

The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients.

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

“…Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant syndrome that has different various expressions in each patient ( Curatolo et al, 2013 , Daneswari and Reddy, 2013 , Fini et al, 2013 , Grundig et al, 2013 , Haenen et al, 2013 , Mohan et al, 2013 , Pol et al, 2013 , Rambocas and Murphy, 2013 , Saulite et al, 2013 , Budincevic et al, 2014 , De Craene et al, 2014 , Friedrich, 2014 , Inani and Mernissi, 2014 , Keceli et al, 2014 , Khan et al, 2014 , Kulkarni et al, 2014 , Larsen et al, 2014 , Mehta et al, 2014 , Mufaddel et al, 2014 , Patankar et al, 2014 , Shephard and Coleman, 2014 , Tarnoki et al, 2014 , Abreu et al, 2015 , Anchlia et al, 2015 , Chandran et al, 2015 , da Silva Pierro et al, 2015 , Galati et al, 2015 , Ganguly et al, 2015 , Grechi et al, 2015 , Hajalioghli et al, 2015 , Lata et al, 2015 , Lazaridou et al, 2015 , Majdoub et al, 2015 , Manjima et al, 2015 , Ojevwe et al, 2015 , Pickrell et al, 2015 , Ramesh et al, 2015 , Hubacek et al, 2016 , Khaliq et al, 2016 , Ozcan et al, 2016 , Ponti et al, 2016 , Ribeiro et al, 2016 , Scalise et al, 2016 , Tandon et al, 2016 , Thomas et al, 2016 , Virgone et al, 2016 , Casari et al, 2017 , da Paz Oliveira et al, 2017 , Mendes-Abreu et al, 2017 , Mendes-Bastos et al, 2017 , Nilesh et al, 2017 , Pennisi et al, 2017 , Sereflican et al, 2017 , Trento et al, 2017 , …”

“…Genetic consultations are also suggested for the dentists in case of early and multifocal OKs are detected. Diagnosis of NBCCS is based upon the major and minor clinical and radiological criteria which should be confirmed by DNA analysis ( Khan et al, 2014 , Kulkarni et al, 2014 , Anchlia et al, 2015 , Mendes-Abreu et al, 2017 , Santander et al, 2018 , Monaco et al, 2019 , Osiecka et al, 2020 , Silva et al, 2020 ).…”