title: Peutz-Jeghers Syndrome With Diffuse Gastrointestinal Polyposis: Three Cases in a Family With Different Manifestations and No Evidence of Malignancy During 14 Years Follow Up.
abstract: BACKGROUND
  Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. Families with PJS may show a variable spectrum of manifestations in spite of their consecutive generations. A probable explanation is novel mutations in contributing genes.
  
  
  METHODS
  This report describes 3 cases of a family. Two daughters presented the classic PJS, while their father only manifested mucocutaneous perioral pigmentation. The junior daughter was underwent 3 and the eldest daughter 2 laparotomies for intussusception. The patients were visited annually and their medical findings were recorded during a follow-up period of 14 years. They were periodically examined in our hospital and despite conveying diffuse polyposis from the esophagus throughout the rectum in these three cases, even a simple hyperplasia was not found in obtained specimens.
  
  
  CONCLUSIONS
  The patients with diffuse PJS may be asymptomatic and without gastrointestinal or extragastrointestinal malignancies.
authors.affiliation: Department of Pediatrics, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
authors.forename: Esfandiar
authors.initials: E
authors.lastname: Matini
authors.affiliation: Department of Gastroenterology, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
authors.forename: Hooman
authors.initials: H
authors.lastname: Houshangi
authors.affiliation: Young Researchers and Elite Club, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
authors.forename: Ehsan
authors.initials: E
authors.lastname: Jangholi
authors.affiliation: Department of Clinical Pathology, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
authors.forename: Pantea
authors.initials: P
authors.lastname: Farjad Azad
authors.affiliation: Department of Medicine, Students' Research Committee, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Najibpour
authors.affiliation: Department of Medicine, Students' Research Committee, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Farshad
keywords: Cancer; Intestinal Polyposis; Intussusception; Peutz-Jeghers Syndrome; Pigmentation