CASE REPORTS   

Italian Journal of Maxillofacial Surgery 2011 December;22(3):191-4

Copyright © 2012 EDIZIONI MINERVA MEDICA

language: English

Nevoid basal cell carcinoma syndrome: clinical and radiological findings in an Italian patient

Codazzi D. ¹, Codazzi F. ², Bocchiotti M. A. ¹, Righi B. ³, Gazmend M. ¹, Robotti E. ³

¹ Department of Plastic Surgery, University of Turin, San Giovanni Battista Hospital, Turin, Italy; ² Department of Radiology, Bolognini Hospital, Seriate, Bergamo, Italy; ³ Department of Plastic Surgery, Riuniti Hospital, Bergamo, Italy

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder due to PTCH1 tumor suppressor gene mutation. Diagnosis can be made in the presence of two major criteria or one major and two minor criteria universally accepted in scientific literature. We present a case in which careful study of the patient’s medical history and files allowed a complete characterization of what could be defined as an undiagnosed NBCCS.