Evaluating diagnostic uncertainty and the role of surgical management in cherubism: a review of nine cases

Abstract

Objective: Cherubism is a rare genetic disorder characterized by bilateral proliferative lesions of the mandible and maxilla. Diagnosis is complex and conservative management is favored; however, aggressive cases often require surgical intervention. This study aims to enhance understanding of diagnostic challenges and surgical strategies to address functional and aesthetic concerns.

Study design: Nine patients diagnosed with cherubism from 2010 to 2024 were included. Patients were graded from I to VI. Clinical presentation, radiographic and histopathologic data, and treatment courses were documented. Outcomes included symptom resolution, functional and aesthetic results.

Results: Mean age at consultation was 8.1 ± 3.4 years. All patients had mandibular involvement; six had maxillary involvement. Genetic testing identified a SH3BP2 mutation in one patient. Two Grade VI cases presented with respiratory and ophthalmic symptoms. Seven patients underwent surgical debulking. Patients with Grade VI cherubism underwent multiple debulking procedures and one received adjuvant denosumab therapy. Surgical outcomes were favorable, with improved facial symmetry in all patients and significant improvement in proptosis and respiratory symptoms in severe cases.

Conclusions: Cherubism is a rare disease that requires an individualized management approach. Surgical management is effective in aggressive cases involving rapidly expanding lesions, impending pathologic fracture, and severe psychosocial distress. Denosumab is a promising adjuvant therapy for enhancing surgical outcomes.