Cherubism. A case report

Publication date: November–December 2017 Source:Reumatología Clínica (English Edition), Volume 13, Issue 6 Author(s): Paolo Cariati, Fernando Monsalve Iglesias, José Fernández Solís, Alfredo Valencia Laseca, Ildefonso Martinez Lara 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.
Source: Reumatologia Clinica - Category: Rheumatology Source Type: research