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

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Clinical guidelines for the management of craniofacial fibrous dysplasia

JS Lee1*, EJ FitzGibbon2, YR Chen3, HJ Kim4, LR Lustig5, SO Akintoye6, MT Collins7 and LB Kaban8

  • * Corresponding author: JS Lee

Author Affiliations

1 Department of Oral & Maxillofacial Surgery, University of California San Francisco, San Francisco, CA, USA

2 Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

3 Chang Gung University, Attending Plastic Surgeon, Chang Gung Craniofacial Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan

4 Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD and Department of Otolaryngology-Head and Neck Surgery, Georgetown University Medical Center, Washington, DC, USA

5 Department of Otolaryngology-Head and Neck Surgery University of California San Francisco, San Francisco, CA, USA

6 University of Pennsylvania School of Dental Medicine Department of Oral Medicine, Philadelphia PA, USA

7 Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA

8 Walter C. Guralnick Professor and Chairman Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA

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Orphanet Journal of Rare Diseases 2012, 7(Suppl 1):S2  doi:10.1186/1750-1172-7-S1-S2

Published: 24 May 2012

Abstract

Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research.