Journal of medical case reports · 2026
Cherubism, emphasizing diagnosis, therapeutic management strategies, and outcomes: a case series.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Aminishakib Pouyan, Hosseini Seyed MohammadMoein, Mohammadi Farnoosh, Yaghmaie Marjan, Modarresi Alireza, Pashaiefar Hossein, Tabatabaei Saba Sadat
Аннотация
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.
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.