Gardner syndrome

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#