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 EN

Introduction : 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.

Case Presentation : 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.