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This article is part of the supplement: International Meeting on Fibrous Dysplasia/McCune-Albright Syndrome and Cherubism

Open Access Proceedings

Cherubism: best clinical practice

Maria E Papadaki1, Steven A Lietman2, Michael A Levine3, Bjorn R Olsen4, Leonard B Kaban5 and Ernst J Reichenberger6*

Author Affiliations

1 Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA

2 The Departments of Orthopaedic Surgery and Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA

3 Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

4 Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA, USA

5 Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA

6 University of Connecticut Health Center, Department of Reconstructive Sciences, Center for Regenerative Medicine and Skeletal Development, Farmington, CT, USA

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Orphanet Journal of Rare Diseases 2012, 7(Suppl 1):S6  doi:10.1186/1750-1172-7-S1-S6

Published: 24 May 2012

Abstract

Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable.

Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone.

Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention.