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Virtual Pediatric Hospital: Paediapaedia: Familial Polyposis Paediapaedia: Gastrointestinal Diseases

Familial Polyposis

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Presents by approximately 10 years of age with painless rectal bleeding.

Etiology/Pathophysiology:
Tranmission as autosomal dominant, but 50% of cases arise spontaneously. The lesions start off being sessile and become pedunculated over time. The polyps are adenomatous with malignant potential and need treatment via a total colectomy as 95% of patients who do not have a colectomy develop colon carcinoma by the 5th decade. The most frequently involved site is the sigmoid.

Pathology:
Not applicable

Imaging Findings:
On an air contrast enema in older patients multiple polyps of relatively uniform size and configuration are seen, ranging from 2-4 millimeters in diameter, that coat the colonic mucosa. In younger patients you may only see serrations of the colonic mucosa that resembles ulcerative colitis.

DDX:

References:
See References Chapter.

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