Cherubism, emphasizing diagnosis, therapeutic management strategies, and outcomes: a case series
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.
Authors
- Alireza Modarresi (ORCID: https://orcid.org/0000-0002-5599-4298)
- Pouyan Aminishakib (ORCID: https://orcid.org/0000-0002-2185-0050)
- Hossein Pashaiefar (ORCID: https://orcid.org/0000-0003-0673-4841)
- Marjan Yaghmaie (ORCID: https://orcid.org/0000-0001-7745-9360)
- Farnoosh Mohammadi
- Seyed MohammadMoein Hosseini (ORCID: https://orcid.org/0009-0004-9971-3509)
- Saba Sadat Tabatabaei
Institutions
- Islamic Azad University Medical Branch of Tehran (IR)
- Stem Cell Technology Research Center (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2026-05-30
- DOI
- https://doi.org/10.1186/s13256-026-06184-8
- Primary Topic
- Bone Tumor Diagnosis and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Tehran University of Medical Sciences and Health Services