Síndrome de Proteus

  • Etimologia
    • Figura mitológica grega, deus marinho, capaz de mudar de forma constantemente, assumia múltiplas aparências
  • Etiology
    • Caused by mosaic mutation in the AKT1 gene
    • Lethal if not mosaic
  • Epidermal nevus is velvety, discreet and takes a back seat to malformations
  • Associated malformations
    • Excessive growth of various organs
    • Uneven limb length and diameter
    • Megalodactyly
    • Lipomatosis
  • Other skin manifestations
    • Cerebral shaped plantar connective nevus
    • Various vascular malformations