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

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)5755-5759
Number of pages5
JournalWorld Journal of Gastroenterology
Volume14
Issue number37
DOIs
Publication statusPublished - 2008 Oct 14

Keywords

  • Cowden's disease
  • Early diagnosis
  • Gastrointestinal polyposis
  • Hamartoma
  • PTEN

ASJC Scopus subject areas

  • Gastroenterology

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