Peutz-Jeghers Syndrome

What is it?
In this condition, multiple polyps are present in the GI tract and there are changes of the skin with spots present that look like freckles.

Who gets it?
This is a genetic condition, meaning that it is passed through families.

What are the symptoms?

Flat, blue-gray spots (1-5mm) occur in over 95% of people with PJS. They look like
freckles and are found on the lips, around and inside the mouth, nose, around the anus,
on genitals, and rarely in the intestines. Often they occur within the first one to two years
of life and fade after puberty.

Polyps in the GI tract. These polyps are made up of smooth muscle and begin to grow in
the first ten years of life, but symptoms do not often develop until ages 10-30.

Symptoms related to the polyps include:

  • Obstruction of the GI tract
  • Abdominal pain
  • Rectal bleeding

How is it diagnosed?
The diagnosis is suggested by a family history of the disease, the presence of the spots, and the presence of polyps. It can be confirmed with genetic testing.

How is it treated?
There is no specific treatment for this syndrome, but you may have specific screening and surveillance tests.

Are there complications?
This syndrome is linked to increased risk of cancers. Regarding the gastrointestinal system, there is an increased risk of colon, biliary, and esophageal cancer. The reason for this increased risk is unknown.

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