Reumatología Clínica (English Edition) Reumatología Clínica (English Edition)
Case report
Cherubism. A case report
Querubismo. Discusión de un caso
Paolo Cariati, , Fernando Monsalve Iglesias, José Fernández Solís, Alfredo Valencia Laseca, Ildefonso Martinez Lara
Hospital Universitario Virgen de las Nieves, Granada, Spain
Received 04 April 2016, Accepted 03 June 2016

Cherubism is a rare disorder with autosomal dominant inheritance. It is classified as a benign fibro-osseous lesions and may involve either facial bone. Its typical dentofacial deformities are caused by mutations in the SH3BP2 gene. The protein encoded by SH3BP2 had a significant role in the regulation of osteoblasts and osteoclasts. Accordingly with the radiological findings, differential diagnoses includes fibrous dysplasia, giant cell granuloma, osteosarcoma, juvenile ossifying fibroma, fibrous osteoma, odontogenic cyst and hyperparathyroidism. The aim of the present report is twofold. First, we examine the importance of the proper management of these cases. Second, we describe this rare syndrome with the goal of proposing suitable treatments.


El querubismo es una enfermedad rara. Presenta herencia autosómica dominante y es clasificada como una enfermedad fibroósea benigna. Las deformidades típicas de esta dolencia se deben a la alteración del gen SH3BP2 y pueden afectar a cualquier hueso del macizo facial. La proteína codificada por este gen es fundamental para el correcto funcionamiento de osteoblastos y osteoclastos. El diagnóstico diferencial debe incluir: displasia fibrosa, granuloma de células gigantes, osteosarcoma, fibroma osificante juvenil, fibroma osteoide e hiperparatiroidismo.

Cherubism, Autosomal dominant inheritance, Benign fibro-osseous disorder, Self-limiting pathology
Palabras clave
Querubismo, Herencia autosómica dominante, Enfermedad fibroósea benigna, Enfermedad autolimitante


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