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Korean J Gastrointest Endosc. 2006 Apr;32(4):293-297. Korean. Case Report.
Hong EJ , Kim HK , Cho YS , Ji JS , Kim CW , Kim CW , Lee BI , Chae HS , Han SW , Choi KY .
Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea. chs@catholic.ac.kr
Abstract

Cowden syndrome, which is also known as 'multiple hamartoma syndrome', is an autosomal dominant condition with variable expression resulting from a mutation in the PTEN gene on the chromosome arm, 10q23. Cowden syndrome causes hamartomatous neoplasms of the skin and mucosa, breast, thyroid, and gastrointestinal tract, and is associated with the development of several types of malignancy. In particular, a marked increase in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women has been reported. We report a case of Cowden syndrome associated with both carcinomas with a review of the relevant literature.

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