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

  • Epidemiology and Pathophysiology (J Cauley and B Dawson-Hughes, Section Editors)
  • Published:
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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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Authors and Affiliations

  1. Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 228 MSC 4320, Bethesda, MD, 20892, USA

    Cemre Robinson, Michael T. Collins & Alison M. Boyce

  2. Division of Endocrinology and Diabetes, Children’s National Health System, Washington, DC, USA

    Alison M. Boyce

  3. Bone Health Program, Division of Orthopaedics and Sports Medicine, Children’s National Health System, Washington, DC, USA

    Alison M. Boyce

Authors
  1. Cemre Robinson
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  2. Michael T. Collins
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  3. Alison M. Boyce
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Correspondence to Alison M. Boyce.

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Conflict of Interest

Cemre Robinson, Michael T Collins, and Alison M Boyce declare that they have no conflict of interest.

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This article does not contain any studies with human subjects performed by any of the authors.

With regard to the authors’ research cited in this paper, all institutional and national guidelines for the care and use of laboratory animals were followed.

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This research was supported by the Intramural Research Program of the National Institute of Dental and Craniofacial Research

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This article is part of the Topical Collection on Epidemiology and Pathophysiology

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Robinson, C., Collins, M.T. & Boyce, A.M. Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. Curr Osteoporos Rep 14, 178–186 (2016). https://doi.org/10.1007/s11914-016-0317-0

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