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Calcif Tissue Int. 2019 May;104(5):517-529. doi: 10.1007/s00223-019-00550-z. Epub 2019 Apr 29.

Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Bench to Bedside Review.

Author information

1
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Building 30 Room 228 MSC 4320, Bethesda, MD, 20892, USA.
2
Interinstitute Endocrine Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
3
Pediatric Endocrinology Training Program, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD, USA.
4
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Building 30 Room 228 MSC 4320, Bethesda, MD, 20892, USA. boyceam@mail.nih.gov.

Abstract

Fibrous dysplasia is an uncommon mosaic disorder in which bone is replaced by structurally unsound fibro-osseous tissue. It is caused by the sporadic post-zygotic activating mutations in GNAS, resulting in dysregulated GαS-protein signaling in affected tissues. This manifests on a broad clinical spectrum ranging from insignificant solitary lesions to severe disease with deformities, fractures, functional impairment, and pain. Fibrous dysplasia may present in isolation or in association with hyperfunctioning endocrinopathies and café-au-lait macules, known as McCune-Albright Syndrome. This review summarizes the current understanding of pathophysiology in fibrous dysplasia, describes key pre-clinical and clinical investigations, and details the current approach to diagnosis and management.

KEYWORDS:

Bone disorders; Bone metabolism; FGF23-mediated hypophosphatemia; McCune–Albright syndrome

PMID:
31037426
PMCID:
PMC6541017
[Available on 2020-05-01]
DOI:
10.1007/s00223-019-00550-z

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