Family with Peutz–Jeghers syndrome in Indonesia

Family with Peutz–Jeghers syndrome in Indonesia

Abstract Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterised by mucocutaneous pigmentation, gastrointestinal polyps and an increased risk of gastrointestinal and other cancers. We report an Indonesian woman, aged 28, with black spots on her lips who had multiple polyps e...

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Bibliographic Details
Main Authors: Muhammad Luthfi Parewangi, Resha Dermawansyah Rusman, Fardah Akil, Nu'man A S Daud, Rini Bachtiar, Susanto Hendra Kusuma, Amelia Rifai, Akiko Syawalidhany Tahir, Upik Miskad, Erwin Syarifuddin
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:JGH Open
Subjects:
autosomal dominant disorder
cancer risk
Peutz–Jeghers syndrome
Online Access:https://doi.org/10.1002/jgh3.12736
Description
Summary:Abstract Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterised by mucocutaneous pigmentation, gastrointestinal polyps and an increased risk of gastrointestinal and other cancers. We report an Indonesian woman, aged 28, with black spots on her lips who had multiple polyps extending from the stomach to the rectum. Her father and a son also had mucocutaneous lesions but they did not undergo gastrointestinal investigations. All three had mutations in the serine/threonine kinase 11 gene (STK11).
ISSN:2397-9070

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