Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection.
Cowden disease (multiple harmartoma syndrome) is of particular interest because the diagnostic mucocutaneous findings are coupled with a striking association of thyroid cancer, breast cancer, and polyposis of the gastrointestinal tract. We report a case of Cowden disease with particular emphasis on the natural history of the case. Although our case is the second reported with colon carcinoma, the absence of adenomatous polyps in other reports of Cowden disease and the stability of the gastrointestinal polyps in our patient over a seven-year period lead us to conclude that the risk of gastrointestinal malignancy is very low.
D000230:Adenocarcinoma / Q000235:genetics; D000328:Adult; D003111:Colonic Polyps / Q000235:genetics; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010808:Physical Examination