Home > D. Systemic pathology > Genetic and developmental anomalies > Gardner syndrome

Gardner syndrome

Monday 9 August 2004

Synopsis

- digestive tumors predisposition

  • numerous adenomatous colonic polyps (colonic adenomas)
  • gastric fundic gland polyposis
  • duodenal ampulloma
  • adenoma of the common human bile duct (9250908)
  • jejunal myoepithelial hamartoma

- minor dental abnormalities
- caniofacial osteomas

  • mandibular osteoma
  • orbital osteoma

- pigmented retinal macules
- adrenal tumors (12694100, 11196455, 19433155, 7296952)

  • aldosterone-secreting tumor with hyperaldosteronism (19433155)
  • cortisol-secreting adrenal adenoma (11196455)
  • adrenal carcinoma (7484586)

- craniopharyngioma (12182421)

- benign cutaneous tumors

  • intracranial epidermoid cysts
    • epidermoid cyst of the cerebellopontine angle (11097528)

- soft tissue tumors

  • nuchal-type fibroma
  • Gardner-associated fibroma (non-nuchal type fibroma) (11156330)
  • desmoid fibromatosis
    • cervical desmoid fibromatosis
    • deep desmoid fibromatosis
      • abdominal parietal desmoid fibromatosis (scar sites)
      • mesenteric desmoid fibromatosis

- adrenal aldosterone-secreting adenoma (19433155)

- dental abnormality (APC-1556 mutations) (15095859)
- cutaneous T-cell-rich B-cell lymphoma (11146353)
- Hodgkin disease (11146353)
- hepatocellular carcinoma (9628444)

- recurrent pancreatitis (10088575)

Etiology

- germline APC gene mutations

References

- Wehrli BM, Weiss SW, Coffin CM. Gardner syndrome.
Am J Surg Pathol. 2001 May;25(5):694-6. PMID: 11342787