Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome

    * Introduction
    * Signs and symptoms
    * Diagnosis
    * Treatment
Peutz-Jeghers syndrome is an autosomal dominant hereditary disorder characterized by the appearance of intestinal polyps in association with hamartomatosi melanocitice mucocutaneous macules. Although intestinal lesions are hamartoame, patients with Peutz-Jeghers syndrome have a 15-fold risk of developing bowel cancer compared with the general population. Tions of bowel cancer include gastrointestinal and extraintestinal areas. The syndrome was described in 1921 by Jan Peutz, a Danish doctor who identified a relationship between intestinal polyps and mucocutaneous macules in a Danish family.
Gastrointestinal polyps Peutz-Jeghers syndrome discovered in hamartoame are typical. Their histology is characterized by progressive smooth muscle arborizatie polyp. This may give the appearance of pseudoinvazie lesion, because some epithelial cells, usually from benign glands are surrounded by smooth muscle. In the gastrointestinal tract of patients may develop cancer at a much increased frequency compared to the general population.
The main cause of morbidity in Peutz-Jeghers syndrome derives from the location of intestinal polyps (colon, small intestine, stomach). Incidence of small bowel obstruction and include intussusceptia-43%, 23%, abdominal pain, hematochezia and prolapse, 14%, 7% of colonic polyps. These phenomena usually occur in the second and third decade of life. Approximately 50% of patients with Peutz-Jeghers syndrome develop and die from cancer until the age of 57 years. Mean age at diagnosis of cancer is 42 years. The cumulative risk of developing any cancer associated with Peutz-Jeghers syndrome patients of 15-64 years is 93%. The cumulative risk of developing a particular cancer at the age of 15-64 years is the esophagus 0. 5%, stomach 29%, 13% small bowel, colon 39%, pancreas 36%, 15% lung, testicular 9%, breast 54%, 9% uterus, cervix, ovary 21% and 10%.
Peutz-Jehgers syndrome is characterized by the combination of pigmented lesions of the oral mucosa and intestinal polyps. The number and size varies from patient to patient. Peutz-Jeghers syndrome should be diagnosed promptly as soon as possible. Genetic counseling is also required. Many of intestinal lesions develop early in life if the clinical syndrome is apparent in the second decade of life. Have implemented a careful evaluation of intestinal and extraintestinal cancers. Peutz-Jeghers syndrome, usually require numerous surgeries throughout their lives. These interventions include laparotomy and laparoscopy for the gastrointestinal and extraintestinal problems.
Pathogenesis and causes.
The cause of Peutz-Jeghers syndrome appears to be a tumor suppressor gene mutation -serina/treonina kinase 11. Penetrance gene is forcing variable phenotypic manifestations among patients with Peutz-Jeghers syndrome (inconstant number of polyps, various presentations of macules) and allowing a variable presentation of cancer.