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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Peutz Jeghers syndrome


Other Names for this Disease

  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
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Symptoms

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What are the signs and symptoms of Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines), and a greatly increased risk of developing certain types of cancer.[1][2]

Children with Peutz-Jeghers syndrome often develop small, dark blue to dark brown spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus.[1][3] These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause medical problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.[1]

People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.[1][2]

Last updated: 3/4/2010

References
  1. Peutz-Jeghers syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/ghr/disease/peutzjegherssyndrome. Accessed 9/3/2009.
  2. Stone C. Peutz-Jeghers syndrome. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/000244.htm. Accessed 9/3/3009.
  3. Amos CI, Frazier ML, McGarrity TJ, . Peutz-Jeghers Syndrome. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pjs. Accessed 9/3/2009.


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.