Gardner syndrome

Images

 focal matrical focus in epidermoid cyst : a clue to Gardner’s syndrome

• https://twitter.com/BenjaminAwood/status/817171629843316736
• https://www.ncbi.nlm.nih.gov/pubmed/27914683

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)
    • focal matrical appearance in epidermoid cyst (27914683)

• 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