When the Jaw Speaks and the Syndrome Unfolds: A Rare Multisystem Manifestation of Gorlin-Goltz Syndrome

Abstract

Background: Gorlin–Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant multisystem disorder characterised by multiple odontogenic keratocysts (OKCs), basal cell carcinomas, palmar/plantar pits, and skeletal anomalies. As OKCs are often the earliest clinical manifestation, timely recognition by dental practitioners is essential for early diagnosis and the prevention of systemic complications. Case Presentation: A young patient presented with recurrent jaw swelling, pain, and pus discharge, with a history of previous surgical intervention for jaw cysts followed by progressive recurrence and an increase in lesion size. Clinical examination revealed cortical expansion with features suggestive of aggressive jaw involvement. Radiographic evaluation demonstrated multiple well-defined, multilocular radiolucent lesions affecting the jaws, with cortical expansion, tooth displacement, and recurrent cystic involvement. Associated systemic findings, including palmar pits, bifid ribs, and calcification of the falx cerebri, together with histopathological confirmation of odontogenic keratocysts, fulfilled the major diagnostic criteria for Gorlin–Goltz syndrome. The recurrent and multifocal nature of the lesions highlighted the aggressive biological behaviour characteristic of syndromic OKCs. Discussion: This case underscores the importance of integrating the recurrent clinical presentation with characteristic radiographic and systemic findings to establish an early diagnosis of GGS. The aggressive growth pattern, multifocal occurrence, and high recurrence potential of syndromic OKCs necessitate long-term surveillance and a multidisciplinary approach. Early identification also enables appropriate genetic counselling and screening for associated systemic manifestations. Conclusion: Recognition of recurrent and multifocal odontogenic keratocysts in conjunction with characteristic extraoral and skeletal findings is crucial for the early diagnosis of Gorlin–Goltz syndrome. Prompt diagnosis facilitates comprehensive multidisciplinary management, lifelong follow-up, and improved patient outcomes.