Cowden syndrome

  • Mecanismo
    • Mutação PTEN/MHAM/CD
      • Encodes a tyrosine phosphatase
      • Rare
      • Autossomal dominant
      • Parte do espectro PTEN Hamartoma Tumor Syndrome
  • Clinical presentation
    • Skin and mucose membranes
      • Trichilemmomas múltiplos (pode parecer acne vulgar)
      • Oral papillomas/fibromas giving paving stone appearance
      • Look for: Acral keratoses, palmar pits (variable onset)
    • Visceral (benign or malignant)
      • Breast carcinoma 85% (often bilateral), fibrocystic breast disease
      • Thyroid carcinoma 35% (usually follicular)
      • Endometrial carcinoma
      • Ovarian
      • GI hamartomas
      • Lung
      • Eye
      • Brain tumors
  • Há mnemónica com vaca
    • Mu - triquileMMOOOOma
    • Tiroide é o colar
    • Mamas são as tetas