The Role of Collaborative Diagnosis in Identifying Nevoid Basal Cell Carcinoma Syndrome: A Vigilant Radiologist Helping a Surgeon

Nevoid basal cell carcinoma syndrome is a rare inherited condition caused by mutations in the PTCH1 gene. It causes a wide range of developmental abnormalities. These patients are encountered by otolaryngologists and radiologists initially presenting with the odontogenic keratocysts affecting maxilla and mandible. Multiple basal cell carcinomas, pits in palmoplantar region and jaw cysts are cardinal features. Often surgeons are unfamiliar with the different manifestations leading to failure to diagnose the condition. A vigilant radiologist can help in the diagnosis and potentially preventing the sequelae.