What is the Prevalence of Undiagnosed Nevoid Basal Cell Carcinoma Syndrome in Children With an Odontogenic Keratocyst?

PURPOSE: Odontogenic keratocysts (OKCs) can occur in isolation or as part of nevoid basal cell carcinoma syndrome (NBCCS). Patients with NBCCS are younger at OKC diagnosis than those with nonsyndromic OKC (NS-OKC). The purpose of this study was to determine the prevalence of undiagnosed NBCCS in children who present with an OKC and to assess differences in demographic and presenting features between children with NBCCS and those with NS-OKC.

MATERIALS AND

METHODS

This study is a retrospective case series of children with an OKC presenting to Boston Children's Hospital (Boston, MA) from 2007 through 2018. To be included, patients had to be no older than 18 years and have a newly diagnosed OKC. Patients were excluded if they had previous or recurrent OKC or NBCCS diagnosis. Records were reviewed for age at presentation, gender, number and location of OKCs, treatment, recurrence, family history, and clinical features consistent with NBCCS. Descriptive data were summarized.

RESULTS

The sample included 50 patients (27 boys) diagnosed with an OKC at a mean age of 11.7 years (range, 2 to 18 yr); 36% (n = 18) with NBCCS and 64% (n = 32) with NS-OKC. NBCCS diagnosis was made in 8 of 18 patients (44%) because of a family history at presentation, and in 10 patients (56%) the diagnosis was made by genetic testing or documentation of diagnostic criteria. Eight of 18 patients (44%) with undiagnosed NBCCS presented with a single OKC. Patients with NBCCS were significantly younger at presentation (NBCCS, 9.3 yr; NS-OKC, 13.0 yr), had more cysts at time of diagnosis (NBCCS, 1.7; NS-OKC, 1.0; P < .05), had more maxillary cysts (NBCCS, 13; NS-OKC, 11), and had a higher recurrence rate (P < .05).

CONCLUSION

Given the prevalence of undiagnosed NBCCS in children with OKC, clinicians should have a low threshold for referral for complete examination or genetic testing in children with even a single OKC.