20 J Oral Diag [online]. 2016; 01:e15 Nevoid basal cell carcinoma syndrome: an analysis of four familial and two sporadic cases Lucielma Salmito Soares Pinto, DDS, PhD 1 Román Carlos-Bregni, DDS 2 Hercílio Martelli Júnior, DDS, PhD 3 Mário Rodrigues Melo Filho, DDS, MSc 3 Wilson Delgado Azañero, DDS 4 Jorge Esquiche León, DDS, PhD 1 Márcio Ajudarte Lopes, DDS, PhD 1 Oslei Paes Almeida, DDS, PhD 1 Jacks Jorge, DDS, PhD 1 1 Department of Oral Pathology, Piracicaba School of Denti try, University of Campinas, Piracicaba, São Paulo, Brazil. 2 Centro Clínico de Cabeza y Cuello, Guatema- la, Guatemala. 3 Department of Oral Pathology, School of Denti try, University of Montes Claros, Mon- tes Claros, Minas Gerais, Brazil. 4 Doctor in Stomatology. Department of Oral Pathology, Faculty of Stomatology, University of Cayetano Heredia, Lima, Peru. ORIGINAL ARTICLE J Oral Diag [online]. 2016; 01:e15 Keywords: congenital malformations, nevoid basal cell carcinoma syndrome, odontogenic keratocyst, ptch, skeletal anomalies. AbstrAct: The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with complete penetrance and variable expressivity. It is caused by mutations in the patched gene, mapped to chromosome 9q22.3-q31. Its characteristics include multiple basal cell carcinomas, odontogenic keratocysts, vertebral and rib anomalies, and intracranial calcifications. Here, we describe the features of 4 familial and 2 sporadic cases of the NBCCS. Corresponding Author: Oslei Paes de Almeida. E-mail: oslei@fop.unicamp.br DOI: 10.18762/2525-5711.20160015 Declaration of Interests: The authors certify that they have no commercial or associative interest that represents a conflict of interest in connection with the manuscript. Submitted: Accepted for Publication: Originally published as 1 (1) January/March 2012.