Open AccessFamily with Peutz–Jeghers syndrome in Indonesia
Author(s) -
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
Publication year - 2022
Publication title -
jgh open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.546
H-Index - 8
ISSN - 2397-9070
DOI - 10.1002/jgh3.12736
Subject(s) - stk11 , peutz–jeghers syndrome , mucocutaneous zone , medicine , rectum , gastrointestinal tract , stomach , dermatology , gastroenterology , cancer , pathology , colorectal cancer , disease , kras
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 ).