Peutz-Jeghers syndrome is an autosomal dominant disease with multiple hamartomatous polyps in the stomach, small bowel, and colon along with distinctive pigmented skin lesions.

Patients are at a significantly increased risk of GI and non-GI cancers; possibly the genetic defect involves a tumor suppressor gene. GI cancers include those of the pancreas, small intestine, and colon. Non-GI cancers include those of the breast, lung, uterus, and ovaries.

The skin lesions are melanotic macules of the skin and mucous membranes, especially of the perioral region, lips and gums, hands, and feet. All but the buccal lesions tend to fade by puberty. Polyps may bleed and often cause obstruction or intussusception.

Diagnosis is suggested by the clinical picture. Genetic testing is not routinely available but should be considered. First-degree relatives should be evaluated and have routine surveillance for cancers, but there is no firm consensus on specific tests and intervals.

Colonic polyps larger than 1 cm typically are removed.

Last full review/revision October 2012 by Elliot M. Livstone, MD

Content last modified November 2012