What is Peutz Jeghers Syndrome (PJS)?
Peutz-Jeghers syndrome is an inherited disorder with a 50% chance of being passed from one generation to the next. Two findings make up this disease: intestinal hamartomatous polyps and blue/black freckling or macules that can be seen on the lips, mouth, nostrils, hands, feet and genitalia.
This syndrome has a significant risk of digestive and other cancers that is 15 times greater than that of the general population. The pigmented macules are usually not present at birth but become noticeable within the first 5 years of life. In some individuals, the freckles fade with age, however the disorder can be present in the absence of skin pigmentation. The gastrointestinal polyps found in Peutz-Jeghers Syndrome are typical hamartomas which can be large and bulky causing bleeding, pain, and blockage of the intestinal tract from “telescoping” of the bowel over a polyp resulting in intussusception of the small intestine.
The majority of children and adolescents with PJS present with crampy pain, vomiting, and bowel obstruction resulting in emergency surgery to correct the intussusception. Newer management techniques are now designed to identify and remove the small intestinal polyps prior to the occurrence of symptoms thereby hopefully avoiding emergency surgery.
This disease is caused by a mistake/mutation in the STK11 or LKB1 gene. Using newer techniques, it is now possible to identify the mistake in over 90% of individuals that have polyps and lip freckles.
Long term follow up and surveillance can reduce the cancer risk of this disease.
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