Gardner syndrome
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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 adenoma (12694100, 11196455)
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)
- cutaneous epidermoid cysts
- 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