Expanding the clinicopathological spectrum of nevoid basal cell carcinoma syndrome associated with odontogenic keratocyst in the Indian population: an institutional experience of 39 cases and review of the literature.

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant hereditary condition associated with developmental abnormalities and tumourigenesis with a prevalence rate of 1:60,000. The objective of this study was to identify NBCCS in patients diagnosed with odontogenic keratocysts (OKC) at Nair Hospital Dental College in Mumbai, India, and to compare the findings with those from Indian and international studies. Archived institutional data on OKC cases from the years 2009-2024 were analysed for NBCCS based on the criteria established by Kimonis et al. in 1997. Of the 231 cases of OKC identified, 39 (16.9%) met the diagnostic criteria for NBCCS; 27 were male and 12 were female (age range 8-55 years). Major criteria observed were OKC, palmar/plantar pits, rib anomalies, calcification of the falx cerebri, basal cell carcinomas, and a positive family history. Minor criteria included ocular hypertelorism, frontal bossing, macrocephaly, multiple pigmented nevi, syndactyly, Sprengel deformities, ovarian fibromas, and vertebral anomaly. Synophrys was found in 76.9% of cases. Analysis of criteria across countries suggests that NBCCS features in India may vary due to genetic or geographical factors The high prevalence of synophrys in this study suggests its inclusion as a new diagnostic criterion for NBCCS.