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Curr Osteoporos Rep. 2016 Oct;14(5):178-86. doi: 10.1007/s11914-016-0317-0.

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

Author information

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.
2
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. boyceam@mail.nih.gov.
3
Division of Endocrinology and Diabetes, Children's National Health System, Washington, DC, USA. boyceam@mail.nih.gov.
4
Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Health System, Washington, DC, USA. boyceam@mail.nih.gov.

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.

KEYWORDS:

FGF23; Fibrous dysplasia; GNAS gene; Gsα; McCune-Albright syndrome

PMID:
27492469
PMCID:
PMC5035212
DOI:
10.1007/s11914-016-0317-0
[Indexed for MEDLINE]
Free PMC Article

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