PEUTZ-JEGHERS SENDROMU - BİR OLGU SUNUMU

Year 2001, Volume: 2 Issue: 2, 23 - 26, 01.08.2001

Gülten İnan F. Serdar Gürel Ayvaz Aydoğdu Ayşe Yenigün Can Karaman

Abstract

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Keywords

Peutz-Jeghers sendromu, mukokütanöz pigmentasyon, intestinal polipozis

Peutz-Jeghers Syndrome-A Case Report

Abstract

Peutz-Jeghers Syndrome (PJS), inherited autosomal dominantly, is a rare syndrome characterised by
mucocutaneus pigmentation and gastrointestinal polyps. Patients with PJS are at very high relative and absolute
risk for gastrointestinal and nongastrointestinal cancers.
Our 6 year old female patient was admitted with melena and also had black pigmented lesions on her oral mucosa.
She gave a long history of abdominal cramps and rectal polyps. Our diagnosis was PJS. There were similar lesions
on her father's and uncle's oral mucosa, her father had a history of gastrointestinal bleeding, her sister had
recurrent abdominal pain and her grandmother's brother had nasopharyngeal and gastric carcinoma.
Recent literature holds the LKB1(STK11) gene responsible for PJS. In patients with PJS the risk of malignancy is
18 times more than normal population. For the early diagnosis of cancer, patients with PJS and their families have
to be examined frequently. Since PJS is a rare disorder, this case was decided to be presented along with a review
of recent literature.

Keywords

Peutz-Jeghers syndrome, mucocutaneus pigmentation, intestinal polyposis

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