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The Clinical Spectrum of McCune-Albright Syndrome and Its Management by Tiahna Spencer; Kristen S. Pan; Michael T. Collins; Alison M. Boyce is a Medicine article available to read on EtoBox.

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McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating __GNAS__ mutations, leading to constitutive Gα~s~ activation and ligand-independent signaling of the Gα~s~-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the __GNAS__ mutation is expressed, as well as the pathophysiologic effects of Gα~s~ activation within these tissues. Patients pre­sent clinically with a variable combination of fibrous dysplasia of bone (FD), café-au-lait skin macules, and hyperfunctioning endocrinopathies. In bone, Gα~s~ leads to impaired differentiation of skeletal stem cells and formation of discrete, expansile FD lesions, resulting in fractures, pain, and functional impairment. A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some skeletal morbidities. This review summarizes current understanding of MAS pathophysiology, describes the spectrum of clinic

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Author

Tiahna Spencer; Kristen S. Pan; Michael T. Collins; Alison M. Boyce

Publisher

S. Karger AG

Published

2019

Language

EN

Field

Medicine (Health Sciences)