Cherubism, Emphasizing Diagnosis, Therapeutic Management Strategies, and Outcomes: A Case Series Publisher Pubmed



Aminishakib P ; Hosseini S M ; Mohammadi F ; Yaghmaie M ; Modarresi A ; Pashaiefar H ; Tabatabaei S S
Source: Journal of Medical Case Reports Published:2026

Abstract

Background: Cherubism is a rare fibro-osseous disorder that shows autosomal dominant inheritance, primarily caused by SH3-BP2 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. © The Author(s) 2026.