Differential Diagnoses

Cowden Disease
Cronkhite-Canada syndrome
Familial Adenomatous Polyposis
Hereditary nonpolyposis colon cancer
Hyperplastic polyposis
Juvenile polyposis syndrome
Peutz-Jeghers Syndrome
Turcot's Syndrome

Workup

Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol. 1986 Dec. 10(12):871-87. [QxMD MEDLINE Link].
Wehrli BM, Weiss SW, Yandow S, Coffin CM. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am J Surg Pathol. 2001 May. 25(5):645-51. [QxMD MEDLINE Link].
Lynch HT, Thorson AG, McComb RD, Franklin BA, Tinley ST, Lynch JF. Familial adenomatous polyposis and extracolonic cancer. Dig Dis Sci. 2001 Nov. 46(11):2325-32. [QxMD MEDLINE Link].
Giardiello FM, Offerhaus GJ, Lee DH, Krush AJ, Tersmette AC, Booker SV. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut. 1993 Oct. 34(10):1394-6. [QxMD MEDLINE Link].
Bienz M. APC. Curr Biol. 2003 Mar 18. 13(6):215-6. [QxMD MEDLINE Link].
Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis. 2013 Jun. 28(6):865-72. [QxMD MEDLINE Link].
Knudson AG. Two genetic hits (more or less) to cancer. Nat Rev Cancer. 2001 Nov. 1(2):157-62. [QxMD MEDLINE Link].
Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine MA, et al. ß-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 2013 Jan. 62(2):294-304. [QxMD MEDLINE Link].
Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001 Jul. 121(1):198-213. [QxMD MEDLINE Link].
Offerhaus GJ, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley NC, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology. 1992 Jun. 102(6):1980-2. [QxMD MEDLINE Link].
Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer. 2006. 5(3):275-85; discussion 287-8. [QxMD MEDLINE Link].
Heiskanen I, Järvinen HJ. Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Int J Colorectal Dis. 1996. 11(4):157-62. [QxMD MEDLINE Link].
Cancer Facts & Figures 2010. American Cancer Society. Available at http://www.cancer.org/acs/groups/content/@epidemiologysurveilance/documents/document/acspc-026238.pdf. Accessed: Jan 2, 2011.
Douma KF, Bleiker EM, Aaronson NK, Cats A, Gerritsma MA, Gundy CM. Long-term compliance with endoscopic surveillance advice for familial adenomatous polyposis (FAP). Colorectal Dis. 2009 Jul 10. [QxMD MEDLINE Link].
Iaquinto G, Fornasarig M, Quaia M, Giardullo N, D'Onofrio V, Iaquinto S, et al. Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc. 2008 Jan. 67(1):61-7. [QxMD MEDLINE Link].
Johnson MD, Mackey R, Brown N, Church J, Burke C, Walsh RM. Outcome based on management for duodenal adenomas: sporadic versus familial disease. J Gastrointest Surg. 2010 Feb. 14(2):229-35. [QxMD MEDLINE Link].
Loccufier A, Vanhulle A, Moreels R, Deruyter L, Legley W. Gardner syndrome and desmoid tumors. Acta Chir Belg. 1993 Sep-Oct. 93(5):230-2. [QxMD MEDLINE Link].
Jones IT, Jagelman DG, Fazio VW, Lavery IC, Weakley FL, McGannon E. Desmoid tumors in familial polyposis coli. Ann Surg. 1986 Jul. 204(1):94-7. [QxMD MEDLINE Link]. [Full Text].
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Lynch PM, Ayers GD, Hawk E, Richmond E, Eagle C, Woloj M. The safety and efficacy of celecoxib in children with familial adenomatous polyposis. Am J Gastroenterol. 2010 Jun. 105(6):1437-43. [QxMD MEDLINE Link].
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Media Gallery

Colon, polyposis syndromes: polyposis coli. Postevacuation image obtained after double-contrast barium enema study shows extensive polyposis of the colon.
Endoscopic images showing multiple large intestinal polyps in a patient with Gardner syndrome. Courtesy of Christina Surawicz, MD, Harborview Medical Center, Seattle, Wash.
Surgical specimen of the colon in a patient with familial polyposis after total colectomy with ileoanal anastomosis. Note the carpetlike appearance of the mucosa covered with polyps.
High-power view of a tubular adenoma. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.
Villous adenoma showing fingerlike projections stretching from the surface of a polyp downward with minimal branching. Courtesy of D. Owen, MD.
Plain lateral skull radiograph in a patient with known Gardner syndrome shows a large osteoma in the occipital region (arrows).
Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
Cyst containing keratinous material (hematoxylin and eosin, original magnification X1.6).

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Author

Michael Gilger, MD Gastrointestinal Pathologist, Colorado GI Pathology, Centennial Pathologists

Michael Gilger, MD is a member of the following medical societies: American Society for Clinical Pathology, College of American Pathologists, United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

Coauthor(s)

Mark A Gilger, MD Professor of Pediatrics, Chief of Pediatric Gastroenterology, Hepatology and Nutrition, Director of Clinical Fellowship Training in Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine; Chief, Gastroenterology and Nutrition Service, Texas Children’s Hospital

Mark A Gilger, MD is a member of the following medical societies: American Academy of Pediatrics, American Society for Gastrointestinal Endoscopy, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Crohn's and Colitis Foundation of America

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching. for: Abbott Nutritional, Abbvie, speakers' bureau.

Additional Contributors

Jorge H Vargas, MD Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, University of California, Los Angeles, David Geffen School of Medicine; Consulting Physician, Department of Pediatrics, University of California at Los Angeles Health System

Jorge H Vargas, MD is a member of the following medical societies: American Liver Foundation, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Pediatric Gardner Syndrome Differential Diagnoses

Differential Diagnoses

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