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McCune-Albright syndrome.

Claudia E Dumitrescu1, Michael T Collins

  • 1Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA. mosteanuc@nidcr.nih.gov

Orphanet Journal of Rare Diseases
|May 21, 2008
PubMed
Summary
This summary is machine-generated.

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by fibrous dysplasia of bone, skin pigmentation, and hormonal issues. Early diagnosis and management of affected tissues are key to improving patient outcomes.

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Area of Science:

  • Genetics and Endocrinology
  • Skeletal Dysplasias
  • Rare Diseases

Background:

  • McCune-Albright syndrome (MAS) is a rare genetic disorder affecting multiple endocrine glands and tissues.
  • It is characterized by a triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).
  • MAS results from somatic mutations in the GNAS gene, leading to constitutive activation of the Gs alpha protein.

Purpose of the Study:

  • To provide a comprehensive overview of McCune-Albright syndrome.
  • To detail the clinical manifestations, diagnosis, and management of MAS.
  • To highlight the genetic basis and potential complications of the syndrome.

Main Methods:

  • Clinical case review and synthesis of existing literature.
  • Analysis of diagnostic criteria and imaging findings for fibrous dysplasia.
  • Review of endocrine evaluations and genetic testing approaches.

Main Results:

  • MAS presents with diverse clinical features including skeletal abnormalities (FD), skin lesions, and various endocrinopathies (PP, hyperthyroidism, Cushing syndrome, etc.).
  • Diagnosis is primarily clinical, supported by radiographic evidence of FD and confirmed by genetic testing (though not always routinely available).
  • Renal involvement occurs in approximately 50% of patients, and while malignancies are rare, they can arise from FD lesions.

Conclusions:

  • MAS is a complex multisystem disorder requiring a multidisciplinary approach for management.
  • Treatment strategies are tailored to the specific affected tissues and manifestations, often involving surgical intervention and bisphosphonates for FD.
  • Genetic counseling is recommended for affected individuals and families due to the somatic nature of the mutation.