Outcomes of surgical, medication and combination therapies for cherubism: a systematic review and qualitative...

Cherubism is a rare genetic fibro-osseous disorder characterized by symmetrical expansion of the maxilla and mandible. The lesions usually progress during childhood, stabilize around puberty, and regress in adulthood. Treatment strategies depend on lesion progression, tissue involvement, and patient concerns. This systematic review aimed to summarize treatment approaches, including surgery, medication, and combined modalities, and to provide an overview of clinical, radiographic, microscopic, and molecular findings. Evidence-based treatment decision-making in cherubism remains challenging, as no prior systematic review has comprehensively evaluated and compared the outcomes of surgical, pharmacologic, and combined approaches.

This review followed PRISMA guidelines. PubMed, ScienceDirect, Cochrane, and SpringerLink databases were searched for studies on cherubism management. Eligible studies included cohort studies, retrospective analyses, case series, and case reports. Late-onset and reactivation cases were excluded. Eighteen studies published between 2015 and 2025 were included after evaluation for relevance, risk of bias, and outcome reliability.

A total of 18 studies comprising 36 patients with cherubism were analyzed. The age ranged from early childhood (around 4 years) to young adulthood (up to 21 years). Genetic testing for SH3BP2 mutations was reported in 5 studies, while a positive familial history was documented in 8 studies. Twelve patients were treated surgically using contouring, curettage, or resection. Seventeen patients received pharmacological therapy alone, including calcitonin, denosumab, or immunomodulating drugs. Seven patients underwent combined surgical and medical treatment. Reported outcomes varied across modalities.

Cherubism management should be individualized based on disease grade and progression. Lower grades respond to conservative or pharmacologic therapy, whereas higher grades often require combined surgical and medical approaches using agents such as denosumab, imatinib, or tacrolimus. Advances in molecular insight and 3D-guided techniques support a trend toward personalized, grade-based treatment. Multicenter longitudinal studies remain essential to validate current strategies and establish standardized management guidelines for cherubism.

https://www.crd.york.ac.uk/PROSPERO/view/CRD42024623376, PROSPERO CRD42024623376.