Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden's

• 作 者: Ken Umemura Sho Takagi Yasushi
• 机 构: Division of Gastroenterology,Division of Molecular Metabolism and Diabetes，Tohoku University Graduat
• 出 处: 世界胃肠病学杂志（英文版）
• 发表日期: 2004年期
• 关键词: Cowden's disease Gastrointestinal polyposis PTEN Early diagnosis Hamartoma

Cowden's disease,one of the several hamartoma syndromes,is characterized by hyperplastic lesions and hamartomas distributed in the whole body.About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors.Based on the criteria of the International Cowden Consortium,this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis.However,Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis.We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy.Clinically,the patient was aware of having bloody stools.Multiple polyps found endoscopically in the esophagus,stomach,ileum,colon and rectum showed histopathologically harnartomatous changes and epithelial hyperplasia.Physical examination revealed oral papiUomatosis and facial trichilemmomas.A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN)gene was found in this case.It was a point mutation of C to T at codon 1003 (CGA→TGA,arginine→stop codon).The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease.It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease.The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.