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.
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
- Iranian Red Crescent medical journal
دوره 17 12 شماره
صفحات -
تاریخ انتشار 2015