Literature DB >> 27427211

Cherubism. A case report.

Paolo Cariati1, Fernando Monsalve Iglesias2, José Fernández Solís2, Alfredo Valencia Laseca2, Ildefonso Martinez Lara2.   

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.
Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

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Keywords:  Autosomal dominant inheritance; Benign fibro-osseous disorder; Cherubism; Enfermedad autolimitante; Enfermedad fibroósea benigna; Herencia autosómica dominante; Querubismo; Self-limiting pathology

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Year:  2016        PMID: 27427211     DOI: 10.1016/j.reuma.2016.06.002

Source DB:  PubMed          Journal:  Reumatol Clin        ISSN: 1699-258X


  1 in total

Review 1.  Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton.

Authors:  Salvatore Stefanelli; Pravin Mundada; Anne-Laure Rougemont; Vincent Lenoir; Paolo Scolozzi; Laura Merlini; Minerva Becker
Journal:  Insights Imaging       Date:  2018-05-15
  1 in total

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