McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a genetic disorder characterised by the association of:

Clinical presentation

Presentation is variable 1:

  • leg pain, limp, pathological fracture: ~ 75%
  • abnormal vaginal bleeding: ~25%
  • coast of Maine cafe-au-lait spots
    • predominantly on back of trunk: ~40% (range 30-50%)
    • often ipsilateral to bone lesions
    • irregular borders
  • hypercortisolism (Cushing syndrome): ~7% 3

Pathology

Genetics

MAS results from a sporadically occurring somatic GNAS gene mutation 2

History and etymology

The condition is named after:

  • Fuller Albright: American (US) endocrinologist (1900-1969)
  • Donovan James McCune: American (US) paediatrician (1902-1976)

See also


Bone tumours

The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the paediatric patient.

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Article Information

rID: 6568
Section: Syndromes
Tag: endocrine
Synonyms or Alternate Spellings:

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