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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

  • epidermal nevus with Darier disease-like changes (#10901729#)
  • multiple familial pilomatricomas (#8747580#)
  • epidermoid cysts (so-called ’sebaceous cysts’)
    • cutaneous epidermoid cysts
      • epidermoid cysts with pilomatricoma-like changes (#15187352#, #7560342#)
  • 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#