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.

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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

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article

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

Alireza Modarresi, Pouyan Aminishakib, Hossein Pashaiefar, Marjan Yaghmaie et al.
Journal of Medical Case Reports
Bone Tumor Diagnosis and Treatments
article

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

Alireza Modarresi, Pouyan Aminishakib, Hossein Pashaiefar, Marjan Yaghmaie, Farnoosh Mohammadi, Seyed MohammadMoein Hosseini, Saba Sadat Tabatabaei
article en

Abstract

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.

Journal of Medical Case Reports
Islamic Azad University Medical Branch of Tehran (IR), Stem Cell Technology Research Center (IR), Tehran University of Medical Sciences (IR)
Tehran University of Medical Sciences and Health Services
Good health and well-being
Openalex Percentile: Top 5%
Bone Tumor Diagnosis and Treatments
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