Peutz-Jeghers Syndrome (PJS)

What is Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is a hereditary condition that causes multiple polyps (abnormal growths) called hamartomas in the gastrointestinal (GI) tract. Hamartomas can be found anywhere from the stomach to the rectum, but they are mostly found in the small intestine.

Children with PJS may have dark-blue or black spots (called pigmentation) on the lips and inside the mouth. These spots are less frequently found on the hands and feet.

PJS occurs in approximately 1 in 150,000 people and affects both males and females equally.

What causes PJS?

Peutz-Jeghers syndrome (PJS) is usually caused by a mutation of the serine threonine kinase (STK11) gene, also called the LKB1 gene. This alteration in the gene mutation can be passed down from a parent, or it can be a new mutation in the STK11/LKB1 gene.

What are the symptoms of PJS?

Children may begin to experience symptoms of PJS during the first 10 to 15 years of life. Abnormal symptoms that may develop include:

  • abdominal pain
  • rectal bleeding
  • diarrhea
  • anemia

Individuals with PJS have an increased risk of developing GI and non-GI related cancers during adulthood.

Gastrointestinal (GI) cancers

  • small intestine
  • stomach
  • large intestine

Non-gastrointestinal cancers

  • breast
  • pancreas
  • ovary
  • lung
  • uterus

The greatest threat in PJS is GI cancer and breast cancer. Dark-blue or black spots on the skin are a common sign of PJS (found in more than 95 percent of children) and can be seen within the first two years of birth, long before polyps are found. These spots may be found on several areas of the body:

  • lips
  • inside the mouth (buccal mucosa)
  • hands
  • feet

It is possible for the pigmentation to fade as the child grows into an adult.

How we care for PJS

The Boston Children's Hospital Polyposis Program provides a full spectrum of care for children with PJS, from the diagnosis to the treatment to follow-up care. Our clinicians use advanced endoscopic techniques tailored for each child.

We bring together specialists from multiple disciplines including Gastroenterology, Genetics and Radiology. In addition, we collaborate with cancer experts from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.