Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder.

Cherubism is a rare, benign fibro-osseous disorder affecting the mandible and maxilla. It is commonly inherited due to monoallelic gain-of-function mutations in the SH3BP2 gene. It presents in early childhood with bilateral, painless jaw swelling and dental malposition, often regressing after puberty. Depending on symptom severity, medical treatments (bisphosphonates, calcitonin, and denosumab) may be considered in selected cases. We present a case of progressive cherubism in a 6-year-old girl exhibiting bilateral jaw enlargement and swallowing difficulties. The diagnosis was confirmed by identifying a pathogenic variant in the SH3BP2 gene. Due to the severity of the clinical presentation, denosumab therapy was initiated using a body surface area-based pediatric regimen (60 mg subcutaneously on days 1, 8, 15, and 28, followed by monthly dosing; 19 doses total). Following treatment, both clinical and radiological improvements were observed. However, there were clinically significant disturbances in calcium homeostasis that required medical management. This case highlights the potential efficacy of denosumab in selected pediatric patients with severe cherubism, while underscoring the importance of individualized dosing, structured biochemical surveillance, and long-term follow-up.