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Peutz-Jeghers Syndrome : Intro

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Peutz-Jeghers syndrome is a rare autosomal dominant syndrome with incomplete and variable penetrance. It is characterized by hamartomatous polyps throughout gastrointestinal tract (small intestine > colon > stomach), mucocutaneous hyperpigmentation, and markedly increased risk of several malignancies (colon, breast, ovary, cervix, lung, pancreatic, and thyroid cancers).

The image shows endoscopic view of a sporadic Peutz-Jeghers polyp in colon. Image courtesy of: @Patholwalker.

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