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Digestive system organs
Digestive system organs

Peutz-Jeghers syndrome
Definition:

Peutz-Jeghers syndrome (PJS) is a disorder characterized by intestinal polyps. In addition, pigmented spots develop from infancy through childhood around the lips, gums, mucus membranes, and skin.

The polyps develop most commonly in the small intestine, but also in the colon. There may be a significant risk of these polyps becoming malignant and thus of patients developing cancer. Some studies link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.

There are two types of PJS -- "familial" PJS is inherited, and "sporadic" PJS means there is no known hereditary link.
Causes, incidence, and risk factors:

When inherited, Peutz-Jeghers syndrome is transmitted as an autosomal dominant trait. This means that on average, half of the children of someone with familial PJS will inherit PJS.
Symptoms:
  • a family history of Peutz-Jeghers syndrome
  • dark freckles on and around the lips of a newborn
  • brownish or bluish gray pigmented spots on the lips, gums and inner lining of the mouth
  • crampy abdominal pain, vomiting
  • occasional gross blood in the stool
Signs and tests:

Tests

Treatment:

Surgery may be needed to remove polyps that cause chronic problems. Iron supplements help counteract blood loss.

In addition, the patient should be monitored periodically to watch for malignant changes in polyps. Comprehensive surveillance guidelines can be found at http://www.geneclinics.orggeneclinics.org. A booklet with additional information by Johns Hopkins University is available at http://www.hopkins-coloncancer.orghopkins-coloncancer.org.
Support Groups:
Information on support groups can be found at the http://www.epigenetic.org/~pjs/homepage.htmlThe Network for Peutz-Jeghers and Juvenile Polyposis Syndrome. An electronic mailing list (discussion group) is available at http://www.acor.orgacor.org.
Expectations (prognosis):
The outcome varies depending on what problems develop.
Complications:
Calling your health care provider:

Call for an appointment with your health care provider if symptoms of this condition are present. Severe abdominal pain indicates a possible emergency condition such as intussusception.

Call for an appointment with your health care provider if planning children and there is a family history of this condition.
Prevention:
Genetic counseling is recommended for prospective parents with a family history of Peutz-Jeghers syndrome. Genetic counselors can be located through the http://www.cancer.gov/search/genetics_servicesCancer Genetics Services Directory.
Review Date: 2/22/2002
Reviewed By: ADAM editorial (2/22/2002). Previously reviewed by Michael M. Owens, M.D., Department of Gastroenterology, University of Washington, Seattle, WA. Review provided by VeriMed Healthcare Network (2/9/2002).
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