Síndrome de Peutz-Jeghers

Rodríguez, M.aJ. Pérez; Barea, F.M. Anaya; Fernández, E. Galiano; Sierra, Darío D; Sánchez-Rojas, I. Condado

doi:10.1157/13117709

Cited by 7 publications

(1 citation statement)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Peutz-Jeghers syndrome (PJS) is a rare disease with autosomal dominant inheritance. Patients display a typical mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract ( 1 ). The polyps take on a risk of potential complications, including bleeding, intestinal obstruction, intussusception, and malignant transformation ( 2 ).…”

Section: Introductionmentioning

confidence: 99%

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

Matini¹,

Houshangi²,

Jangholi³

et al. 2015

Iran Red Crescent Med J

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 99%