[Proteus = Greek god who could change his shape, “Elephant Man”]

= cutaneous + visceral combined lymphatic-venous malformations with multiple subcutaneous hamartomas, pigmented nevi, hemihypertrophy, hand or foot overgrowth, bone exostoses, lipomatosis

Incidence:>200 cases

Cause: mutation in Akt-1 kinase

• mild symptoms at birth with rapid aggravation at puberty

Diagnostic criteria:

• group A › connective tissue nevi
• group B › linear epithelial nevi
  • asymmetric overgrowth (limbs, spine, skull, internal organs)
  • bilateral ovarian cystadenomas / parotid monomorphic adenoma before 2^nd decade of life
• group C › lipomas / localized absence of fat
  • low-flow vascular malformations
  • lung cysts
  • facial malformations

Dx: A + 2 criteria of group B or 3 criteria of group C

• asymmetric overgrowth of bones + soft tissues
• hypertrophy of fat
• skull enlargement
• wall thickening of digestive tract
• cystic emphysematous changes of lung