Correlazioni fenotipiche nella sindrome del nevo basocellulare: la nostra esperienza

The purpose of this project of research is to analyse the dermatological phenotypic findings observed in 2 groups of patients affected by basal cell nevus syndrome (BCNS): 12 adults and 4 children. Very interesting data have emerged in the paediatric population, such as the early onset of basal cell carcinomas (BCCs), almost in atypical presentations, namely acronordon-like BCCs and acral- BCCs. In addiction we observed the trichoepitheliomas, never described before associated with the BCNS and the palmar-plantar pits, reds and browns. In the literature studies about the different clinical phenotypes of the BCNS comparing adults and children are rare. Unfortunately, we present a small sample size but BCNS is a very rare disorder. However, further studies are needed to better understand the mechanisms underlying such differences. This project is the result of a multidisciplinary collaboration of the Dermatology Unit (Rare Diseases Center and Cutaneous Tumors Center), Medical Genetics Unit and of Oral and Maxillofacial Surgery Unit of the University of Bologna