Peutz-Jeghers Syndrome - PJS


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: