Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the development of hamartomatous polyps in the gastrointestinal tract and the presence of distinctive pigmented macules on the lips, oral mucosa, and skin.
The polyps associated with Peutz-Jeghers Syndrome usually occur in the small intestine, but they can also be found in the stomach, colon, and rectum. These polyps are noncancerous (benign) growths that have a characteristic appearance under a microscope. While most polyps do not cause symptoms, larger polyps or multiple polyps can lead to complications such as bleeding or obstruction within the affected part of the intestine.
In addition to gastrointestinal polyps, individuals with Peutz-Jeghers Syndrome typically develop freckle-like spots that range in color from brown to blue-black. These spots most commonly appear on the lips, but they can also occur on the hands, feet, buccal mucosa (inner cheek lining), and genitalia. The appearance of these spots usually begins in childhood and intensifies during puberty.
Peutz-Jeghers Syndrome is caused by mutations in the STK11 gene, which is responsible for producing a protein involved in the regulation of cell growth and division. This gene mutation is inherited in an autosomal dominant manner, meaning that a person with one copy of the mutated gene can pass the disorder on to their children. Individuals affected by Peutz-Jeghers Syndrome have an increased risk of developing certain types of cancer, including breast, colon, pancreatic, stomach, ovarian, and testicular cancer. Regular surveillance and management of this syndrome are necessary to detect and treat any potential complications early.
