McCune Albright

Etiologia
  • Mosaic mutation in the GNAS gene (embryos only survive if mosaicism occurs)
 
Clinical features
  • Unilateral café-au-lait spots with unilateral, ragged edges
  • Polyostotic fibrous dysplasia
  • Endocrinopathies
    • Peripheral precocious puberty (most common)
    • Cushing syndrome
    • Acromegaly
    • Hyperthyroidism
 
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The 3 P's of McCune-Albright syndrome are Polyostotic fibrous dysplasia, Pigmentation (café-au-lait spots), and Precocious puberty.