Pathophysiology
1) hereditary polyposis coli syndrome with large and small bowel carpeted by adenomatous polyps 2) occurs in association with other tumors and hypertrophic tissue
Signs and Symptoms
1) thousands of adenomatous polyps in large and small bowel (usually do not develop until after puberty) 2) mesenteric desmoid tumors 3) epidermoid inclusion cysts (sebaceous cysts) especially on face 4) soft tissue tumors (lipomas and fibromas) 5) congenital retinal hypertrophy 6) cancer of ampulla of Vater
Histology/Gross Pathology
polyps are adenomas
Associated Conditions
100% of patients develop adenocarcinoma of bowel before age 40 years
Inheritance/Epidemiology
1) autosomal dominant (occasionally occurs as sporadic condition) 2) deletion of APC gene on long arm of chromosome 5
Treatment
total colectomy with ileoanal anastomosis
Tips for USMLE
if a 6 year old girl develops multiple epidermoid inclusion cysts on her face, has hypertrophic renal tissue, but has no polyps on upper and lower barium studies, think Gardner’s
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