Gardner Syndrome

  • AD; APC tumor suppressor gene - regulares B-catenin
    • “The most complete form of familial adenomatous polyposis, due to APC mutation” (Saurat)
  • Cutaneous
    • Epidermoid cysts with pilomatricoma-like changes
    • Fibromas
    • Lipomas
    • Desmoid tumors in surgical scars
  • GI
    • Premalignant polyposis → colorectal adenocarcinoma 100%
    • Prophylatic colectomy by 2nd/3rd decade
  • Ocular
    • Congenital hypertrophy of retinal pigment epithelium (CHRPE)
  • Dental/bone
    • Osteomas (visible large firm nodules on jaw), odontomas of teeth, supernummerary teeth
  • Other malignancies: papillary thyroid carcinoma (women)