What is Peutz-Jeghers syndrome?
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Peutz-Jeghers (PJS) syndrome is a genetic disorder that primarily affects the gastrointestinal tract, causing the formation of benign polyps called Hamartomas in the intestines and stomach. It also causes the appearance of flat, colored spots called maculas, most often occur on the lips, inside the mouth and on the hands and legs. Polyps are not cancer in themselves, but people suffering from Peutz-Jeghers syndrome have a significantly increased risk of cancer in many organs. It can also cause problems in the digestive system, including intestinal obstruction and abdominal pain. This is also sometimes called hereditary intestinal polyposis syndrome. Most, but not all, people with the condition have a mutation in serine/threonin kinase 1 or STK11, a gene located on chromosome 19. Many different mutations of the STK11 gene are possible and as a result the nature and severity of PJ symptoms may vary. The cause of the disease in humans without Mutation STK11 is still unknown.
SyndromePeutz-JegHers is autosomal dominant, which means that a mutation that causes not to be on one of the sex chromosomes (X and Y) and that one copy of the defective gene, adopted from both parents, is sufficient to cause disorder. A genetic defect can also occur with someone without a family history of PJ, because of a new mutation than inheritance. It is a rare state, with estimates of its frequency ranging from one in 30,000 people to one in 300,000 people.
The first sign of Peutz-Jeghers syndrome is usually the appearance of brown maculas on the skin of infant age, followed, followed by a macula in the mouth of the suffering and around. These often begin to decrease over time and can be gone to adulthood. Polyps begin to form inside the gastrointestinal tract during childhood, which can cause intestinal obstruction due to either blocking the polyps themselves, or cause one part of the intestine to fold down on other parts, a state called inspecting. This obstruction can cause severe pain, vomiting and bleeding, and if there is no summerCheno, can lead to necrosis of intestinal tissue, sepsis and finally death.
Peutz-Jeghers syndrome have a dramatically increased risk of cancer. The risk of cancer increases in many organs, often occurs in the pancreatic, lungs and organs of the digestive tract. Women also have a higher risk of breast, uterus and ovarian cancer.