ICCBH2017 Poster Presentations (1) (209 abstracts)
Is cherubism a systemic disease? Prospective study about 9 patients
Aline Joly 1 , Gérard Maruani 1 , Valérie Cormier Daire 1 , Brigitte Fauroux 1 , Ariane Berdal 2 , Arnaud Picard 1 & Amélie Coudert 2
1Hôpital Necker-Enfants Malades, Paris, France; 2Laboratoire physiopathologie orale moléculaire INSERM 1138, Paris, France.
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 phenotype of cherubism patients in order to determine if cherubism is not only a maxillofacial disease but also a systemic disease.
Methods: Nine cherubism patients from 9 to 21 years-old and of various cherubism grade had been included. Clinical evaluation sought for systemic tissue infiltration, bone loss phenotype, biological bone remodeling markers, and biological systemic inflammation markers.
Results: From clinical evaluation, two patients presented systemic tissue infiltration (spleen, liver), one patient presented osteoporosis (Z-Score=−4). Osteoblastic biological markers tested were elevated in three patients, osteoclastic biological markers in 6 patients and inflammatory cytokines (IL1β, IL6, TNFα) were increased in five patients.
Conclusion: Our study suggest that cherubism is not an exclusive maxillofacial disease. For the first time, the potential systemic phenotype of cherubism was analyzed and variations of biological and radiological parameters in cherubism patients were demonstrated.
Disclosure: The authors declared no competing interests.
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