印度尼西亚的佩-吉二氏综合征家族。
Family with Peutz-Jeghers syndrome in Indonesia.
作者信息
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
机构信息
Division of Gastroenterology-Hepatology, Department of Internal Medicine, Faculty of Medicine Hasanuddin University Makassar Indonesia.
Department of Internal Medicine, Faculty of Medicine Hasanuddin University Makassar Indonesia.
出版信息
JGH Open. 2022 Apr 12;6(5):358-360. doi: 10.1002/jgh3.12736. eCollection 2022 May.
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 ().
黑斑息肉综合征（PJS）是一种罕见的常染色体显性疾病，其特征为黏膜皮肤色素沉着、胃肠道息肉以及胃肠道和其他癌症风险增加。我们报告一名28岁的印度尼西亚女性，嘴唇有黑斑，胃至直肠有多发性息肉。她的父亲和一个儿子也有黏膜皮肤病变，但未接受胃肠道检查。三人的丝氨酸/苏氨酸激酶11基因均有突变（）。
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