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- W1887985196 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." @default.
- W1887985196 created "2016-06-24" @default.
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- W1887985196 date "2015-12-19" @default.
- W1887985196 modified "2023-10-04" @default.
- W1887985196 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" @default.
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- W1887985196 doi "https://doi.org/10.5812/ircmj.19271" @default.
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