Work

Cherubism, emphasizing diagnosis, therapeutic management strategies, and outcomes: a case series

Year: 2026

Type: article

Abstract: BACKGROUND: mutations. This study presents nine cases with a primary focus on therapeutic strategies and outcomes, including the use of denosumab in a refractory case. Genetic analysis was performed in a subset of patients, and a practical diagnostic and therapeutic algorithm is proposed. CASE PRESENTATION: Nine Persian patients (7 males, 2 females; onset 2-14 years), are reported with clinical, radiographic, histopathological, and genetic findings (in three cases) with identified mutations in two cases. Treatment strategies included observation, intra-lesional corticosteroid, surgery, denosumab, and calcitonin. Outcomes varied by modality and timing, with denosumab and calcitonin proving effective in controlling progression after surgical relapse in one case. CONCLUSION: This case series highlights the variable natural behavior of cherubism and provided an algorithm for diagnosis and management based on expert consensus.

Source: Journal of Medical Case Reports

DOI: 10.1186/s13256-026-06184-8