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Peutz-Jeghers Syndrome
Sunday, 08 June 2008
Thursday, 04 September 2008
Hereditary Intestinal Polyposis Syndrome, Hamartomatous Intestinal Polyposis, Polyps and Spots Syndr


Peutz-Jeghers Syndrome is a rare disorder of childhood, marked by dark skin deposits and growths in the intestinal tracts. The dark skin deposits, called melanin deposits, are found on the lips and inside the mouths of affected children. The growths inside their intestinal tracts are called hamartomatous polyps. These polyps can sometimes lead to bleeding and sometimes to cancer in the colon, stomach, breast, pancreas, lung or uterus.


Peutz-Jeghers Syndrome affects boys and girls equally. It can occur in any racial or ethnic group. It is not known how many children are born with this disorder, but the estimates range from 1 in 25,000 to 300,000 births. It is passed on to children from their parents in an autosomal dominant inheritance pattern, meaning that if one parent has the disorder, their children have a 50% chance of having it. The average age at diagnosis is 23 years of age, however, children can also present with symptoms.

Signs and Symptoms

Children with Peutz-Jeghers Syndrome are usually diagnosed within the first one to two years of life after the appearance of the freckle-like melanin deposits, most commonly on the lips and inside the mouth. The spots are sometimes found on the hands and feet. These are flat and can look either bluish or black. The spots may increase in number after the first 2 years of life. Most finally fade after puberty, except for those found in the mouth. However, the intestinal growths are more worrisome as they can be associated with the following symptoms:

1. Pain in the abdomen

2. Diarrhea (sometimes bloody)

 3. Vomiting

4. Feeling tired (fatigue) 

5. Freckles around the eyes 

6. Pallor (associated with anemia)

Possible Causes

The cause of Peutz-Jeghers Syndrome is unknown at this time, but researchers have identified one gene that may be responsible for the disorder. However, this gene is only found in some families, so more research must be done to find more genetic information.


Diagnosis of Peutz-Jeghers Syndrome is suggested by the melanin deposits on the skin and mouth that are seen on physical examination. A family history will determine if the parents have a similar appearance or similar gastrointestinal problems. Imaging studies may look for polyps throughout your child's intestinal tract. An upper G.I. study can show large polyps in the stomach and small intestines; in this test, your child will drink a special dye to outline the polyps before x-rays are taken. A more direct imaging study may be performed by viewing the inside of the intestines with a special camera (colonoscopy) and by taking tiny pieces of the polyps to examine under a microscope (biopsy). Blood tests may also be performed to ensure the child is not losing too much blood. Blood tests may also look for the gene responsible for the disorder, but only a biopsy can provide the final diagnosis. Genetic testing is available at specialized laboratories, however the gene mutation above is only found in up to 60% of families.


Treatment for Peutz-Jeghers Syndrome focuses on the prevention of complications. To help counteract low red blood cell counts (anemia) that develops, your child may need medicines such as iron and his or her red blood cell counts will be monitored yearly. More importantly, your child may need surgery. The polyps in the intestinal tract may lead to abnormal movement such as telescoping of their intestines; this telescoping is called intussusception and can cause pain, bleeding and obstruction. If obstruction occurs, surgery may be necessary. Because the polyps carry a risk of becoming cancerous, surgical removal is usually necessary. Sometimes this can be done by endoscopy, a procedure similar to the small camera that looks inside the intestines. Other times, an abdominal surgery may be necessary.

The cancers associated with Peutz-Jeghers Syndrome cannot be prevented, but they can be detected early with regular doctor visits. Once children turn 10 years old, they should have two tests, every two years, to look for polyps: endoscopy and imaging studies of the small intestines. Once your child reaches young adulthood, he or she should undergo colonoscopy every two years. Once young women reach age 20, they should have a mammogram, a pap smear and a pelvic ultrasound every two years. Everyone, once they turn 30, should have an abdominal ultrasound every two years to look for pancreatic cancer.


With appropriate treatment, Peutz-Jeghers Syndrome is not life threatening. The most serious complication is cancer, however this can be detected early with routine medical care, biopsies and surgery.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.



In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


1. National Institute of Health   

This website contains basic medical information and definitions of medical terms. Helpful illustrations and a few links to other websites with information.

2. National Organization for Rare Disorders (NORD)                                                                                                                               

This website provides basic information and has an extensive list of organization, resources and support groups related to Peutz-Jeghers Syndrome

3. Support Groups: or

4. Genetic Counselors: or

Google Search for Peutz-Jeghers Syndrome

References and Sources

1. Andres, JM (1996) Tumors of the gastrointestinal tract. In: Rudolph AM, Hoffman JIE, Rudolph CD (eds) Rudolph's Pediatrics, 20th ed, Appleton & Lange, p 962, 1109.

2. Boardman LA (2002) Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterology Clinics of North America. Dec 01, 31(4):1107-31.

3. Duchini, Andrea. Peutz-Jeghers Syndrome. Emedicine.

4. Laboratories performing genetic testing include:                                                              

- Ohio State University Molecular Pathology Laboratory, Columbus, OH                           

 Phone (614)292-5484, Fax (614)292-7072; email:                          

 - GeneDx, Ind., Rockville, MD                                                                                    

Phone (301)519-2100 ext 102, Fax (301)519-2892                                                         
Email: (

5. Lembo, Anthony et al. Peutz-Jeghers Syndrome;, January 31, 2008.