Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 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.
Peutz-Jeghers Syndrome 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.
Peutz-Jeghers Syndrome 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.
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.
Peutz-Jeghers Syndrome Treatment
There is no treatment developed yet to aid Peutz-Jeghers syndrome.