Date of this Version
Orphanet Journal of Rare Diseases
7 (Supplement 1)
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.
© 2012 Lee et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Lee, J. S., FitzGibbon, E. J., Chen, Y. R., Kim, H. J., Lustig, L. R., Akintoye, S. O., Collins, M. T., & Kaban, L. B. (2012). Clinical Guidelines for the Management of Craniofacial Fibrous Dysplasia. Orphanet Journal of Rare Diseases, 7 (Supplement 1) (S2), http://dx.doi.org/10.1186/1750-1172-7-S1-S2
Date Posted:30 July 2018
This document has been peer reviewed.