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Family with Peutz-Jeghers syndrome in Indonesia. 2022
Muhammad Luthfi Parewangi, and
Resha Dermawansyah Rusman, and
Fardah Akil, and
Nu'man A S Daud, and
Rini Bachtiar, and
Susanto Hendra Kusuma, and
Amelia Rifai, and
Akiko Syawalidhany Tahir, and
Upik Miskad, and
Erwin Syarifuddin
Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine Hasanuddin University Makassar 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 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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