Condition

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a rare genetic disease that causes both benign (noncancerous) and malignant (cancerous) growths.

What are common symptoms of Peutz-Jeghers syndrome?

Polyps in the gastrointestinal (GI) tract, especially in the small intestine
Intussusception (IN-tuss-uh-SEP-shun): One part of the intestinal tube can push itself into another part like a collapsing telescope
Hyperpigmentation: dark brown or bluish spots on the face, fingers, toes and anal-genital areas
Cancers

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Frequently Asked Questions

What tumors can occur with Peutz-Jeghers syndrome?

What causes Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome is caused by a gene change (mutation) in the STK11 gene. The STK11 gene is responsible for suppressing tumor cells.

The STK11 gene shows complete penetrance. This means that people with a change in this gene will likely develop features of the condition.

However, this gene expresses itself in various ways, so not everyone experiences the same course. Peutz-Jeghers can vary from person to person, even among people within the same family.

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