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Colon tumor

Familial polyposis syndromes

Gardnerís syndrome

Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 15 October 2011, last major update September 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.


● A variant of familial adenomatous polyposis (eMedicine)
● Incidence of 1 per million in US
● Colonic adenomatous polyps plus extraintestinal features of multiple osteomas (skull, mandible and long bones), epidermal cysts and fibromatosis (10%, usually intraabdominal after surgery, aggressive and may cause death), fibromas, lipomas, impacted and supernumerary teeth, dental cysts and congenital hypertrophy of retinal pigment epithelium
● Also lymphoid polyps of terminal ileum
● 100% develop colon carcinomas
● Due to mutations of APC gene, but with variable penetrance, so all extracolonic features may not be present

Case reports

● 11 year old girl presenting with fibromatosis (World J Gastroenterol 2005;11:5408)


● Similar to familial adenomatous polyposis

Gross images

11 year old girl

Mucosa studded with polyps

Micro images


End of Colon tumor > Familial polyposis syndromes > Gardnerís syndrome

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