Definition:
Peutz-Jeghers is also popularly known as Hereditary Intestinal Polyposis Syndrome. This is an autosomal disease involving the dominant genes. It is occurs as a development of some hamartomatous polyps in our gastrointestinal tract.
Diagnosis:
To diagnose the disease, the physician is guided by three known criteria. This includes family history, presence of mucocutaneous lesions that causes patches of hyperpigmentation often in the mouth and also on the hands and sometimes on the feet, hamartomatous polyps present in the patient's gastrointestinal tract, patients should have at least 2 of the 3 criteria to indicate being positive with Peutz-Jeghers syndrome.
Treatment:
There is no treatment developed yet to aid Peutz-Jeghers syndrome.
Symptoms and Signs:
Most of the time, the first symptom that manifest in the patients is an obstruction of bowel from an intussusception. This is a telescoping of a loop of the bowel into yet another segment. People often diagnosed with this syndrome is at the age of 23, however the lesions can already be identified and seen by astute pediatrician upon birth. Before reaching the age of puberty, the mucocutaneous lesions manifest itself on the soles or palms of the patient.
Causes:
Recently in 1998, it was found that a gene was associated directly with the mutation of the sundrome. This gene is known as STK11/LKB1 in the chromosome 19. This is beleived to be a possible gene that suppresses tumor which is inherited by an individual in an Autosomal Dominant patter. This means that any person with PJS has a possible 50% chance of passing the syndrome to their children.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
