Alternative Names
Intestinal polyposis-cutaneous pigmentation syndrome; Lentiginosis, Perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; PJS
Symptoms & Characteristics
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 stomach and gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.
Treatment
Early diagnosis, routine surveillance and treatment of Peutz-Jeghers syndrome may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 1 in 300,000 births.
Genetics & Inheritance
Mutations in the STK11 gene cause 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.
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.
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.
Genetic Testing
Cancer predisposition testing for Peutz-Jeghers syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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