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Peutz-Jeghers syndrome
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Peutz-Jeghers syndrome

Reviewed April 2006

What is Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines), and a greatly increased risk of developing certain types of cancer.

Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause medical problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.

People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.

How common is Peutz-Jeghers syndrome?

The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 births.

What genes are related to Peutz-Jeghers syndrome?

Mutations in the STK11 gene cause Peutz-Jeghers syndrome.

The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in one copy of this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. Researchers suggest that an additional gene mutation, either in the second copy of the STK11 gene or in another gene, can occur in certain cells during a person's lifetime. This combination of genetic changes may trigger the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome.

Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.

Read more about the STK11 gene.

How do people inherit Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of Peutz-Jeghers syndrome in their family. These cases appear to result from new mutations in the STK11 gene.

Where can I find information about treatment for Peutz-Jeghers syndrome?

These resources address the management of Peutz-Jeghers syndrome and may include treatment providers.

You might also find information on treatment of Peutz-Jeghers syndrome in Educational resources and Patient support.

Where can I find additional information about Peutz-Jeghers syndrome?

You may find the following resources about Peutz-Jeghers syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Peutz-Jeghers syndrome?

  • Intestinal polyposis-cutaneous pigmentation syndrome
  • Lentiginosis, Perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
  • Polyposis, Intestinal, II
  • Polyps-and-spots syndrome

What if I still have specific questions about Peutz-Jeghers syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Peutz-Jeghers syndrome?

anus ; autosomal ; autosomal dominant ; bowel obstruction ; cancer ; cell ; cell division ; chronic ; cutaneous ; gastrointestinal ; gene ; hamartoma ; hamartomatous ; intestine ; mutation ; new mutation ; obstruction ; ovary ; pancreas ; pigmentation ; polyp ; polyposis ; prevalence ; protein ; stomach ; syndrome ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (7 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: April 2006
Published: January 23, 2009