A case of nevoid basal cell carcinoma syndrome with multiple keratocystic odontogenic tumors carrying a missense mutation of the PTCH1 gene

Abstract

We rarely find multiple cystic lesions in the human jaw on panoramic radiographs. Multiple cystic lesions caused by keratocystic odontogenic tumors (KCOTs) have often been described in patients with nevoid basal cell carcinoma syndrome (NBCCS) (also called Gorlin syndrome), which is a hereditary condition that is transmitted in an autosomal dominant manner with various types of expression. NBCCS is accompanied by various malformations and tumors in either the ectodermal or mesodermal organs, such as the ribs, and vertebral anomalies, multiple basal cell carcinomas, and KCOTs.
A 15-year-old boy presented at our department because of multiple cystic lesions in the maxillomandibular bone. We performed examinations and diagnosed NBCCS. For treatment, we enucleated the multiple KCOTs under general anesthesia and analyzed the PTCH1 gene in both the patient and his parents. As a result, a missense mutation, c.3257T ＞ G（p.L1086R） was found to be the causative mutation in this patient.