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Definition

Peutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. A person with PJS has a high risk for developing certain cancers.

Causes

It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 50,000 to 200,000 people.

PJS is caused by a mutation in the gene called STK11 (previously known as LKB1). There are two ways that PJS can occur:

• Familial PJS is inherited in families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
• Spontaneous PJS is not inherited from a parent. The gene mutation occurs on its own. Once someone carries the genetic change, their children have a 50% chance of inheriting it.

Symptoms

Symptoms of PJS are:

• Brownish or bluish-gray spots on the lips, gums, inner lining of the mouth, and skin
• Clubbed fingers or toes
• Cramping pain in the belly area
• Dark freckles on and around the lips of a child
• Blood in the stool that can be seen with the naked eye (sometimes)
• Vomiting

Exams and Tests

The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in two ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine.

Additional exams may show:

• Part of the intestine folded in on itself (intussusception)
• Benign (noncancerous) tumors in the nose, airways, ureters, or bladder

Laboratory tests may include:

• Complete blood count (CBC) -- may reveal anemia
• Genetic testing
• Stool occult blood, to look for blood in stool
• Total serum iron and iron-binding capacity (TIBC) -- may indicate iron-deficiency anemia

Treatment

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

People with this condition should be monitored by a health care provider and checked regularly for cancerous polyp changes.

Support Groups

More information and support for people with PJS and their families can be found at:

• National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• Genetic and Rare Diseases Information Center (GARD) -- rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome

Outlook (Prognosis)

There may be a high risk for these polyps becoming cancerous. Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.

Possible Complications

Complications may include:

• Intussusception
• Polyps that lead to cancer
• Ovarian cysts
• A type of ovarian tumors called sex cord tumors

When to Contact a Medical Professional

Contact your provider for an appointment if you or your child has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.

Prevention

Genetic counseling is recommended if you are planning to have children and have a family history of this condition.

References

Garber JJ, Chung DC. Colonic polyps and polyposis syndromes. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 126.

McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266/. Updated September 2, 2021. Accessed April 18, 2024.

Zahler SG, Kabbany MN, Murray KF. Tumors of the digestive tract. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 393.

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