Case Report
Copyright ©2008 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Oct 7, 2008; 14(37): 5755-5759
Published online Oct 7, 2008. doi: 10.3748/wjg.14.5755
Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden’s disease
Ken Umemura, Sho Takagi, Yasushi Ishigaki, Masahiro Iwabuchi, Shigeru Kuroki, Yoshitaka Kinouchi, Tooru Shimosegawa
Ken Umemura, Sho Takagi, Yoshitaka Kinouchi, Tooru Shimosegawa, Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan
Yasushi Ishigaki, Division of Molecular Metabolism and Diabetes, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan
Masahiro Iwabuchi, Department of Gastroenterology, Sendai Medical Center, Sendai 980-8574, Japan
Shigeru Kuroki, Department of Dermatology, Kurihara Central Hospital, Kurihara 228-0014, Japan
Author contributions: Umemura K, Takagi S, Ishigaki Y, Iwabuchi M and Kuroki S contributed equally to this work; Umemura K, Takagi S and Iwabuchi M designed the research; Umemura K, Ishigaki Y and Kuroki S performed the research; Ishigaki Y analyzed the data; Umemura K, Takagi S, Kinouchi Y and Shimosegawa T wrote the paper.
Correspondence to: Ken Umemura, Division of Gastro-enterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo, Aoba, Sendai 980-8574, Japan. umekun@nyc.odn.ne.jp
Telephone: +81-22-7177171 Fax: +81-22-7177177
Received: May 27, 2008
Revised: August 18, 2008
Accepted: August 25, 2008
Published online: October 7, 2008
Abstract

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 hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis 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.

Keywords: Cowden’s disease; Gastrointestinal polyposis; PTEN; Early diagnosis; Hamartoma