Family with Peutz–Jeghers syndrome in Indonesia

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...

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Autores principales: Parewangi, Muhammad Luthfi, Rusman, Resha Dermawansyah, Akil, Fardah, Daud, Nu'man A S, Bachtiar, Rini, Kusuma, Susanto Hendra, Rifai, Amelia, Tahir, Akiko Syawalidhany, Miskad, Upik, Syarifuddin, Erwin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Publishing Asia Pty Ltd 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120882/
https://www.ncbi.nlm.nih.gov/pubmed/35601121
http://dx.doi.org/10.1002/jgh3.12736
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author Parewangi, Muhammad Luthfi
Rusman, Resha Dermawansyah
Akil, Fardah
Daud, Nu'man A S
Bachtiar, Rini
Kusuma, Susanto Hendra
Rifai, Amelia
Tahir, Akiko Syawalidhany
Miskad, Upik
Syarifuddin, Erwin
author_facet Parewangi, Muhammad Luthfi
Rusman, Resha Dermawansyah
Akil, Fardah
Daud, Nu'man A S
Bachtiar, Rini
Kusuma, Susanto Hendra
Rifai, Amelia
Tahir, Akiko Syawalidhany
Miskad, Upik
Syarifuddin, Erwin
author_sort Parewangi, Muhammad Luthfi
collection PubMed
description 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).
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spelling pubmed-91208822022-05-21 Family with Peutz–Jeghers syndrome in Indonesia Parewangi, Muhammad Luthfi Rusman, Resha Dermawansyah Akil, Fardah Daud, Nu'man A S Bachtiar, Rini Kusuma, Susanto Hendra Rifai, Amelia Tahir, Akiko Syawalidhany Miskad, Upik Syarifuddin, Erwin JGH Open Case Reports 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). Wiley Publishing Asia Pty Ltd 2022-04-12 /pmc/articles/PMC9120882/ /pubmed/35601121 http://dx.doi.org/10.1002/jgh3.12736 Text en © 2022 The Authors. JGH Open published by Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Parewangi, Muhammad Luthfi
Rusman, Resha Dermawansyah
Akil, Fardah
Daud, Nu'man A S
Bachtiar, Rini
Kusuma, Susanto Hendra
Rifai, Amelia
Tahir, Akiko Syawalidhany
Miskad, Upik
Syarifuddin, Erwin
Family with Peutz–Jeghers syndrome in Indonesia
title Family with Peutz–Jeghers syndrome in Indonesia
title_full Family with Peutz–Jeghers syndrome in Indonesia
title_fullStr Family with Peutz–Jeghers syndrome in Indonesia
title_full_unstemmed Family with Peutz–Jeghers syndrome in Indonesia
title_short Family with Peutz–Jeghers syndrome in Indonesia
title_sort family with peutz–jeghers syndrome in indonesia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120882/
https://www.ncbi.nlm.nih.gov/pubmed/35601121
http://dx.doi.org/10.1002/jgh3.12736
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