Peutz-Jeghers syndrome
Journal Title: Ege Tıp Dergisi - Year 2016, Vol 55, Issue 3
Abstract
Peutz-Jeghers syndrome (PJS) is an autosomally dominant inherited disease which is responsible for mucocutaneous pigmentation and gastrointestinal polyps. Round, oval or irregular patches of brown pigmentation 1-5 mm in diameter, distributed over the oral mucosa, gums, hard palate and lips are observed. Most of the polyps reside in the jejunum, it may also ocur in ileum, stomach, duodenum and/or colon. There is a higher risk of intestinal and extraintestinal cancers in those patients. Herein we present a 44-year-old male patient having intermittent episodes of bloating and abdominal pain without a particular localization, as well as mild iron deficiency anemia for ten years. Physical examination revealed pigmented lesions on oral mucosa and fingertips, palpable mass on abdominal left upper quadrant, and colonoscopy showed multiple hamartomatous polyps. At the operation performed for the mesenteric mass, it was detected that 2 of 8 small intestinal polyps have intramucosal carsinoma and the mesenteric mass was reported as signet ring cell carsinoma. Patients with PJS should be regularly and closely monitored, because of the increased risk of cancer.
Authors and Affiliations
Tuğba Han Yılmaz, Tevfik Avcı, Varlık Erol, Hüseyin Gülay
Keywords
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- EP ID EP341980
- DOI 10.19161/etd.344215
- Views 131
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