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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Detalles Bibliográficos
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
Descripción
Sumario: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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