Peutz Jeghers syndrome


Peutz-Jeghers syndrome (PJS) is a disorder often passed down through families (inherited) in which the person develops intestinal polyps and is at a significantly higher risk for developing certain cancers.


It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births. There are two types of PJS: * Familial PJS is due to a mutation in a gene called STK11. The genetic defect is passed down (inherited) through families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50:50 chance of inheriting the bad gene. * Sporadic PJS is not passed down through families and appears unrelated to the STK11 gene mutation.


The three main criteria for diagnosis are: * Family history * Mucocutaneous lesions causing patches of hyperpigmentation in the mouth and on the hands and feet. The oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis. Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek. The mucosa of the lower lip is almost invariably involved as well. * Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with a extraordinarily low potential for malignancy. Having 2 of the 3 listed criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as Addison's disease and McCune-Albright syndrome, and these should be included in the differential diagnosis. Definitive diagnosis requires a histological sample of a polyp.


Almost half of Peutz-Jeghers patients die from cancer by age 57 years, and the cumulative risk of developing a form of cancer associated with Peutz-Jeghers syndrome between ages 15-64 is 93%.


Approximately 50% of patients with PJS develop and die from cancer by 57 years of age. The overall risk of Peutz-Jeghers syndrome patients developing a cancer over adult life is 93%. Cancers are not only located on the gastrointestinal tract but can occur on many other sites including the breast, ovary, testicle, pancreas, uterus, oesophagus and lung. There is no specific treatment for PJS but the main goal is to manage and prevent associated problems of intestinal obstruction and intussusception, and cancer development. Management of PJS patients should include: * Annual CBC * Annual physical examination of breasts, abdomen, pelvis and testes * Repeated removal of bleeding or large polyps (>5 mm) by endoscopic polypectomy * Laparotomy and resection as required for repeated or persistent intestinal intussusception, obstruction, or persistent bleeding * Surgical removal of cancers as they are diagnosed DNA screening may be offered to family members to see if they have inherited the gene mutation. If so, they should also undergo regular screening for disease. The freckling may be less obvious with careful sun protection. In some cases, the pigmentation may be lessened by cosmetic treatment. Cosmetic camouflage may also be useful.