title: Cherubism. A case report.
abstract: 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.
authors.affiliation: Hospital Universitario Virgen de las Nieves, Granada, Spain. Electronic address: paolocariati1@gmail.com.
authors.forename: Paolo
authors.initials: P
authors.lastname: Cariati
authors.affiliation: Hospital Universitario Virgen de las Nieves, Granada, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Monsalve Iglesias
authors.affiliation: Hospital Universitario Virgen de las Nieves, Granada, Spain.
authors.forename: José
authors.initials: J
authors.lastname: Fernández Solís
authors.affiliation: Hospital Universitario Virgen de las Nieves, Granada, Spain.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Valencia Laseca
authors.affiliation: Hospital Universitario Virgen de las Nieves, Granada, Spain.
authors.forename: Ildefonso
authors.initials: I
authors.lastname: Martinez Lara
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D002636:Cherubism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D000072700:Conservative Treatment; D003937:Diagnosis, Differential; D019468:Disease Management; D005799:Genes, Dominant; D006801:Humans; D007570:Jaw Cysts / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D008297:Male; D010006:Osteoblasts / Q000473:pathology; D010010:Osteoclasts / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human
keywords: Autosomal dominant inheritance; Benign fibro-osseous disorder; Cherubism; Enfermedad autolimitante; Enfermedad fibroósea benigna; Herencia autosómica dominante; Querubismo; Self-limiting pathology