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 tobeexaminedfrequently. Since PJSisararedisorder, thiscasewas decidedtobepresentedalong withareview of recent literature.
Keywords: Peutz-Jeghers syndrome, mucocutaneus pigmentation, intestinal polyposis