Authors
V Anguera-Ortega, P Cahuana-Bartra, L Brunet-Llobet, Y González-Chópite, E I Mashala, J Miranda-Rius
Published in
Case reports in dentistry. Volume 2026. Pages 1332643. Epub Oct 10, 2026.
Abstract
Multiple odontogenic keratocysts are one of the major diagnostic criteria of Gorlin syndrome and may represent an early manifestation of the disorder in pediatric patients. This report describes the diagnostic process and management of an 11-year-old boy who presented with multiple mandibular cystic lesions associated with displacement of developing permanent teeth. Clinical and radiographic examination, including cone-beam computed tomography, revealed several well-defined radiolucent lesions suggestive of odontogenic keratocysts. A conservative treatment approach was adopted, consisting of decompression of the largest lesion and enucleation of smaller lesions, with the aim of preserving developing dentition and reducing treatment-related morbidity. Histopathological examination confirmed the diagnosis of odontogenic keratocysts. Genetic evaluation by Sanger sequencing identified a heterozygous de novo PTCH1 variant, NM_000264.5(PTCH1):c.1340T>A (p.Leu447∗), confirming the diagnosis of Gorlin syndrome. After 18 months of radiographic surveillance and 30 months of clinical monitoring, progressive bone regeneration, reduction in lesion size, favorable spontaneous repositioning of the affected teeth, and no evidence of recurrence were observed. This case highlights the diagnostic value of multiple odontogenic keratocysts as an early manifestation of Gorlin syndrome and supports conservative management and multidisciplinary follow-up in growing patients.
PMID:
42859845
Bibliographic data and abstract were imported from PubMed on 11 Oct 2026.
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