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Background <p>Cherubism is a rare fibro-osseous disorder that shows autosomal dominant inheritance, primarily caused by SH<sub>3</sub>-BP<sub>2</sub> 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.</p> Case presentation <p>Nine Persian patients (7 males, 2 females; onset 2–14&#xa0;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.</p> Conclusion <p>This case series highlights the variable natural behavior of cherubism and provided an algorithm for diagnosis and management based on expert consensus.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月30日

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

摘要

Background

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.

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.