Multiple Extensive Odontogenic Keratocysts in a Child With Gorlin-Goltz Syndrome: A Case Report.

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant multisystem disorder characterized by a broad spectrum of developmental abnormalities and tumor predisposition. Multiple odontogenic keratocysts (OKCs) are one of its major diagnostic manifestations and may precede the development of other characteristic features. Early recognition of syndromic OKCs is particularly important in children, in whom other clinical manifestations may not yet be apparent. We present the case of a 13-year-old boy referred for evaluation of progressive facial asymmetry caused by extensive maxillary lesions. Maxillofacial computed tomography revealed four large, well-defined osteolytic lesions involving both maxillae and the mandible, with associated impacted teeth. The largest lesions occupied nearly the entire maxillary sinuses and caused marked cortical thinning, expansion, and displacement of adjacent structures. Magnetic resonance imaging confirmed the presence of four lesions consistent with OKCs. Additional imaging demonstrated lamellar calcification of the falx cerebri and characteristic rib abnormalities. Based on the presence of two major diagnostic criteria, OKCs diagnosed before 20 years of age and lamellar calcification of the falx cerebri, and one minor criterion, rib abnormalities, a clinical diagnosis of GGS was established according to current diagnostic guidelines. Genetic evaluation was initiated and was ongoing at the time of manuscript preparation. All four lesions were surgically enucleated during a single procedure, together with the associated impacted or ectopically positioned teeth. Histopathological examination confirmed the diagnosis of OKCs in all excised lesions. The postoperative course was uncomplicated, and the patient was referred for continued multidisciplinary follow-up because of the risk of recurrence and development of additional lesions. This case highlights the importance of considering GGS in children presenting with multiple OKCs, even in the absence of characteristic cutaneous manifestations. Comprehensive radiological assessment can facilitate recognition of additional diagnostic features and enable early clinical diagnosis, appropriate treatment, and long-term surveillance.