PJS

Polyposis, Juvenile Syndrome (PJS), also known as Peutz-Jeghers syndrome, is a rare inherited condition characterized by the development of noncancerous growths (polyps) in the gastrointestinal tract and a distinctive pattern of pigmented skin changes.

Signs and Symptoms

The most common symptoms of PJS include abdominal pain, blood in the stool, and anemia. The polyps can cause a variety of health problems including intestinal obstruction, bleeding, and anemia. The pigmented skin changes typically appear as dark blue to dark brown spots on the lips, around and inside the mouth, around the eyes and nostrils, and in the anal area. They may also occur on the hands and feet.

Causes

PJS is caused by mutations in the STK11 gene. This gene provides instructions for making an enzyme that helps regulate cell division. Mutations in the STK11 gene lead to uncontrolled cell growth and the formation of polyps.

Diagnosis

Diagnosis of PJS is based on clinical criteria, including the presence of characteristic pigmented skin changes and a family history of the condition. Genetic testing can confirm the diagnosis.

Treatment

Treatment for PJS involves regular screening for polyps and other complications. Polyps can be removed during a procedure called an endoscopy. Medications may be used to manage symptoms.

Prognosis

The prognosis for individuals with PJS is generally good, but they have an increased risk of developing certain types of cancer, including colorectal cancer, pancreatic cancer, and breast cancer.

See Also

• STK11
• Polyposis
• Genetic disorder
• Endoscopy

References

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