Peutz-Jeghers syndrome


Peutz-Jeghers syndrome (PJS) is a disorder characterized by intestinal polyps. In addition, pigmented spots develop from infancy through childhood around the lips, gums, mucous 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, which is inherited, and “sporadic” PJS, which displays no hereditary link.

Causes, incidence, and risk factors

When inherited, Peutz-Jeghers syndrome is transmitted as an autosomal dominant trait. This means that, on average, each child of someone with familial PJS has a 50-50 chance of inheriting PJS.


  • 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 visible blood in the stool

Signs and tests

  • Intestinal polyps  
  • Intussusception (part of the intestine folds in on itself)  
  • Clubbed fingers or toes  
  • Exostoses (benign tumors in the ear)  
  • Anemia


  • Genetic testing  
  • X-ray of abdomen to detect intestinal polyps  
  • Stool guaiac (a test for blood in the stool)  
  • Complete blood count (CBC)  
  • Total iron-binding capacity (TIBC) (a blood test)  
  • Polyps biopsy (colonoscopy or flexible sigmoidoscopy)


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 A booklet with additional information by Johns Hopkins University is available at

Support Groups
Information on support groups can be found at the The Network for Peutz-Jeghers and Juvenile Polyposis Syndrome. An electronic mailing list (discussion group) is available at

Expectations (prognosis)
The outcome varies depending on what problems develop.


  • Intussusception (part if the intestine folds in on itself)  
  • Polyps that lead to cancer  
  • Ovarian cysts  
  • Sex cord tumors

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.

If you are planning to have children and there is a family history of this condition, it may be helpful to talk with your health care provider.

Genetic counseling is recommended for prospective parents with a family history of Peutz-Jeghers syndrome. Genetic counselors can be located through the Cancer Genetics Services Directory.

Johns Hopkins patient information

Last revised: December 6, 2012
by Simon D. Mitin, M.D.

Medical Encyclopedia

  A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | 0-9

All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.