Human pathology

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Gardner syndrome

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Desmoid fibromatosis

Synopsis

- digestive tumors predisposition

- minor dental abnormalities
- caniofacial osteomas

- pigmented retinal macules
- adrenal adenoma (12694100, 11196455)
- 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

- 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