Author:
Morice Anne,Joly Aline,Ricquebourg Manon,Maruani Gérard,Durand Emmanuel,Galmiche Louise,Amiel Jeanne,Vial Yoann,Cavé Hélène,Belhous Kahina,Piketty Marie,Cohen-Solal Martine,Berdal Ariane,Collet Corinne,Picard Arnaud,Coudert Amelie E.,Kadlub Natacha
Abstract
Abstract
Background
Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in fibroblasts and multinuclear giant cells. SH3BP2 is a ubiquitous adaptor protein yet the consequences of SH3BP2 mutation have so far been described as impacting only face. Cherubism mouse models have been generated and unlike human patients, the knock-in mice exhibit systemic bone loss together with a systemic inflammation.
Case presentation
In light of these observations, we decided to search for a systemic cherubism phenotype in a 6-year-old girl with an aggressive cherubism. We report here the first case of cherubism with systemic manifestations. Bone densitometry showed low overall bone density (total body Z-score = − 4.6 SD). Several markers of bone remodelling (CTx, BALP, P1NP) as well as inflammation (TNFα and IL-1) were elevated. A causative second-site mutation in other genes known to influence bone density was ruled out by sequencing a panel of such genes.
Conclusions
If this systemic skeletal cherubism phenotype should be confirmed, it would simplify the treatment of severe cherubism patients and allay reservations about applying a systemic treatment such as those recently published (tacrolimus or imatinib) to a disease heretofore believed to be localised to the jaws.
Publisher
Springer Science and Business Media LLC
Subject
Orthopedics and Sports Medicine,Rheumatology
Cited by
4 articles.
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