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Updated: Dec 27 2021

Gardner Syndrome

  • Snapshot
    • A 23-year-old man presents with problems involving his teeth, bones, and vision. There is a family history of tumors of the thyroid and adrenal glands. Clinical evaluation reveals supernumerary teeth, long-bone osteomas, and increased retinal pigmentation.
  • Introduction
    • Subtype of familial adenomatous polyposis (FAP)
    • FAP plus bony and soft tissue tumors
      • osteomas
      • desmoid tumors
      • congenital hypertrophy of retinal pigment epithelium
      • cutaneous lesions
      • adrenal adenomas
      • nasal angiofibromas
    • Genetics
      • autosomal dominant
      • arises from same mutations as FAP
        • inactivating mutation in APC (adenomatous polyposis coli) gene
  • Presentation
    • Symptoms/physical exam
      • hundreds to thousands of adematous polyps in colon
        • increased (inevitable) risk of colon cancer
      • dental abnormalities
        • supernumerary teeth
      • osteomas of mandible, skull, and long bones
      • cutaneous lesions
        • epidermal cysts
        • fibromas
      • desmoid tumors
        • most commonly on abdomen
        • plaques
        • does not metastasize, but does invade in adjacent structures
      • congenital hypertrophy of retinal pigment epithelium
        • patches of pigmented lesions on ocular fundus
        • predicts FAP with 42% sensitivity and 97% specificity
    • Endoscopy
      • > 100 colorectal adenomatous polyps
    • Radiography
      • opaque lesions in bone
    • Genetic testing
      • APC mutation
  • Differential Diagnosis
    • Peutz-Jegher syndrome
    • Lynch syndrome
    • Based on endoscopy for polyposis, clinical exam, family history, and genetic testing
  • Treatment
    • Prophylactic colectomy as in FAP
    • Routine screening for extracolonic tumors
      • CT every 3 years
  • Complications
    • Untreated growth of desmoid tumors
      • most common cause of mortality after colectomy is done
      • invasion into vessels, nerves, bowel, etc
  • Prognosis
    • Almost normal with colonic screening and colectomy
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