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

Publication date: Available online 5 February 2019

Source: Journal of Oral and Maxillofacial Surgery

Author(s): Deepti S. Karhade, Salim Afshar, Bonnie L. Padwa

Abstract

Purpose

Odontogenic keratocysts (OKC) can occur in isolation or as part of nevoid basal cell carcinoma syndrome (NBCCS). Subjects with NBCCS are younger at OKC diagnosis than those with non-syndromic 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.

Methods

Retrospective case series of children with an OKC presenting to Boston Children's Hospital from 2007 - 2018. To be included patients had to be < 18 years of age 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, sex, number and location of OKC, treatment, recurrence, family history and clinical features consistent with NBCCS. Descriptive data were summarized.

Results

The sample included 50 subjects (27 males) diagnosed with an OKC at a mean age of 11.7 years (range 2-18); 36% (n=18) with NBCCS and 64% (n=32) with NS-OKC. NBCCS diagnosis was made in 8 of 18 (44%) subjects because of a family history at presentation, and in 10 subjects (56%) the diagnosis was made by genetic testing and/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 years: NS-OKC 13.0 years), had more cysts at the time of diagnosis (NBCCS 1.7; NS-OKC 1.0) (p<0.05), had more maxillary cysts (NBCCS 13; NS-OKC 11) and had a higher recurrence rate (p<0.05).

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.

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