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Vol. 13. Num. 6.November - December 2017
Pages 311-370
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Vol. 13. Num. 6.November - December 2017
Pages 311-370
Case report
DOI: 10.1016/j.reumae.2016.06.006
Cherubism. A case report
Querubismo. Discusión de un caso
Paolo Cariati
Corresponding author

Corresponding author.
, Fernando Monsalve Iglesias, José Fernández Solís, Alfredo Valencia Laseca, Ildefonso Martinez Lara
Hospital Universitario Virgen de las Nieves, Granada, Spain
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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.

Autosomal dominant inheritance
Benign fibro-osseous disorder
Self-limiting pathology

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.

Palabras clave:
Herencia autosómica dominante
Enfermedad fibroósea benigna
Enfermedad autolimitante


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