Peutz-Jeghers Syndrome - PJS

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Although discovered by Dr. Peutz in 1921, PJS, as it is called, was not widely known until 1949. At that time, Dr. Jeghers and his colleagues described small dark freckles around the lips, cheeks, fingertips or toes, as well as up to several dozen polyps in the large and small intestine which mostly developed from birth to early adulthood. Patients with PJS generally do not have the same type of precancerous polyps as those with FAP. There is a small risk of cancer within or outside the intestine which may increase with age. Women undergo regular breast and ovarian examination while men are checked for testicular growths, as well as bowel follow-up.

This is an inherited disease of the gastrointestinal tract first described in 1896. A Dutch doctor, Dr. Peutz in 1921, and an American doctor, Dr. Jeghers, in 1944 were responsible for identifying the various features of the disease. The term "Peutz-Jeghers Syndrome," or PJS, was first seen in the medical literature in 1954. It is a rare disorder affecting approximately 1 in 100,000 people. The hallmark features are:

  • Treelike branching polyps called hamartomas develop in the lining of the large bowel and small intestine, more often in the small intestine. Hamartomas may be tiny or large and have a firm surface, often sitting on a stalk. When seen under the microscope, hamartomas have smooth muscle at their centre. Sometimes, mushroom-shaped polyps called adenomas may also develop.

  • Small freckles which range in colour from brown to blue or black, around the lips or eyes, inside the cheeks, on the nose, fingertips, or toes. These freckles are harmless and often develop in affected babies or children, offering an early clue to this disease. Very dense freckles on the lips can be treated without harming the delicate skin.

  • Talk to a dermatologist who is a skin specialist in laser therapy. Since these freckles may fade as one gets older, patients may forget that they had these freckles as a child and may be misdiagnosed when they develop bowel symptoms. There is no association between the number of freckles and the severity of PJS. Some people may have bowel polyps without freckles and still have PJS. Some people who have a family history of PJS will only develop freckles.

  • A 50 per cent likelihood that each child of an affected parent will inherit the PJS gene

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