Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p186 | (1) | ICCBH2017

Is cherubism a systemic disease? Prospective study about 9 patients

Joly Aline , Maruani Gerard , Daire Valerie Cormier , Fauroux Brigitte , Berdal Ariane , Picard Arnaud , Coudert Amelie

Introduction: Cherubism is a rare pediatric disease with a maxillofacial localization caused by mutations of the SH3BP2 gene. Pathogenesis is well described in the Sh3bp2 KI mouse model that presents a systemic inflammatory and bone phenotypes maintained by TNFα and due to the presence of hypersensitive myeloid precursors. In human, the disease is usually described as a maxillofacial exclusive disease. The aim of our study was to explore the systemic phe...