Cherubism. A case report

Reumatol Clin. 2017 Nov-Dec;13(6):352-353. doi: 10.1016/j.reuma.2016.06.002. Epub 2016 Jul 11.
[Article in English, Spanish]

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.

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

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Cherubism* / diagnosis
  • Cherubism* / genetics
  • Cherubism* / therapy
  • Child
  • Conservative Treatment
  • Diagnosis, Differential
  • Disease Management
  • Genes, Dominant
  • Humans
  • Jaw Cysts / diagnostic imaging
  • Jaw Cysts / genetics
  • Jaw Cysts / pathology
  • Male
  • Osteoblasts / pathology
  • Osteoclasts / pathology

Substances

  • Adaptor Proteins, Signal Transducing
  • SH3BP2 protein, human