Author/Authors :
Matini، Esfandiar نويسنده Department of Pediatrics, Islamic Azad University, Tehran
Medical Sciences Branch, Tehran, IR Iran , , Houshangi، Hooman نويسنده Department of Gastroenterology, Islamic Azad University,
Tehran Medical Sciences Branch, Tehran, IR Iran , , Jangholi، Ehsan نويسنده Young Researchers Club, Tehran Medical Branch, Islamic Azad University, Tehran, Iran Jangholi, Ehsan , Farjad Azad، Pantea نويسنده Department of Clinical Pathology, Islamic Azad University,
Tehran Medical Sciences Branch, Tehran, IR Iran , , Najibpour، Reza نويسنده Students Research Committee, Islamic Azad University,
Tehran Medical Sciences Branch, Tehran, IR Iran , , Farshad، Ali نويسنده Department of Medicine, Students’ Research Committee,
Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR
Iran ,
Abstract :
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. 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. The patients with diffuse PJS may be asymptomatic and without gastrointestinal or extragastrointestinal malignancies
