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

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.

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.

This case series highlights the variable natural behavior of cherubism and provided an algorithm for diagnosis and management based on expert consensus.