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Article

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

Journal of medical case reports - 30 May 2026

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

Abstract excerpt

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...

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Identifiers

PMID: 42218537
DOI: 10.1186/s13256-026-06184-8
PMCID: PMC13430865

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