Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p474 | Paediatric bone disease | ECTS2016

Defining a new severity classification and searching for a pronostic factor in cherubism: NFATc1 localization is the answer

Kadlub Natacha , Siessecq Quentin , Galmiche Louise , Vazquez Marie-Paule , Badoual Cecile , Berdal Ariane , Picard Arnaud , Descroix Vianney , Coudert Amelie

Cherubism is a rare genetic disease (OMIM #118400) characterized by a massive jaw bone osteolysis. This pathology appears around 2–5 years old and in the less severe cases spontaneously regresses after puberty. So far the only treatment available is surgery, often disabling and traumatic. As the cherubism pathophysiology is not yet understood, we carried out a thoroughly characterization of the cherubism granulomas from ten unrelated patients to determine the cells involv...