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McCune–Albright Syndrome

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Advanced Practice in Endocrinology Nursing

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Abstract

McCune–Albright syndrome (MAS) is a rare, non-hereditable genetic disorder classically defined by a clinical presentation of bone (fibrous dysplasia), skin (café-au-lait macules), and/or endocrine abnormalities. Sporadic occurrence of an activating mutation in the GNAS gene creates a mosaic tissue environment marked with normal and mutated cells. Mutation effect is variable with ability to cause significant disruption to various organs. Bone abnormalities include deformities and fractures, which may lead to pain, disability, and immobility. Visible irregularly shaped skin markings may be large and pronounced. Hyper-functioning endocrinopathies pose challenges to normal growth, development, and function. Individual presentation is unique in extent and severity with a range from mild, barely recognizable symptoms to severe, disfiguring disease. MAS commonly presents in childhood with a fracture or endocrine abnormality, which leads to a diagnosis. Individual variation drives the need for medical and nursing care that is centered on an accurate diagnosis. Management and treatment of bone and endocrine disease enhances and promotes patient well-being and optimal physical functioning. Despite the complexity and challenges, the majority of individuals affected appear to be psychologically well adjusted and live productive lives (Kelly et al., Bone 37(3):388–394; 2005).

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Abbreviations

CF:

Craniofacial

FD:

Fibrous dysplasia

GHX:

Growth hormone excess

GNAS:

Guanine nucleotide binding protein alpha stimulating activity polypeptide

MAS:

McCune–Albright syndrome

NTX:

N-telopeptide

OTC:

Over-the-Counter

PP:

Precocious puberty

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Key Reading

  1. Boyce AM, Collins MT. Fibrous dysplasia/McCune HYP Albright syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReview. Seattle, WA: University of Washington; 2015.

    Google Scholar 

  2. Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. Orphanet J Rare Dis. 2012;7(Suppl 1):S4.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Chapurlat R, Gensburger D, Jimenez-Andrade J, Ghilardi J, Kelly MH, Mantyh P. Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S3.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Kelly MH, Brillante B, Kushner H, Gehron Robey P, Collins MT. Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone. Bone. 2005;37(3):388–94.

    Article  PubMed  Google Scholar 

  5. Robinson C, Collins MT, Boyce AM. Fibrous dysplasia/McCune-Albright syndrome: clinical and translational perspectives. Curr Osteoporos Rep. 2016;14(5):178.

    Article  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. National Institutes of Health, National Institute of Dental and Craniofacial Research, Skeletal Disorders and Mineral Homeostasis Section, Bethesda, MD, USA

    Beth Brillante & Lori Guthrie

Authors
  1. Beth Brillante
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  2. Lori Guthrie
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Corresponding author

Correspondence to Beth Brillante .

Editor information

Editors and Affiliations

  1. School of Health Sciences, City, University of London, London, UK

    Sofia Llahana

  2. Department of Oncology, Skåne University Hospital, Lund, Sweden

    Cecilia Follin

  3. Northwest Pituitary Center Oregon Health and Sciences University, Portland, OR, USA

    Christine Yedinak

  4. Churchill Hospital, University of Oxford, Oxford, UK

    Ashley Grossman

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Brillante, B., Guthrie, L. (2019). McCune–Albright Syndrome. In: Llahana, S., Follin, C., Yedinak, C., Grossman, A. (eds) Advanced Practice in Endocrinology Nursing. Springer, Cham. https://doi.org/10.1007/978-3-319-99817-6_11

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  • DOI: https://doi.org/10.1007/978-3-319-99817-6_11

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