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Current Osteoporosis Reports
Published in: Current Osteoporosis Reports 5/2016

01-10-2016 | Epidemiology and Pathophysiology (J Cauley and B Dawson-Hughes, Section Editors)

Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives

Authors: Cemre Robinson, Michael T. Collins, Alison M. Boyce

Published in: Current Osteoporosis Reports | Issue 5/2016

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Abstract

Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.
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Metadata
Title
Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives
Authors
Cemre Robinson
Michael T. Collins
Alison M. Boyce
Publication date
01-10-2016
Publisher
Springer US
Published in
Current Osteoporosis Reports / Issue 5/2016
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI
https://doi.org/10.1007/s11914-016-0317-0

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