Korean J Gastrointest Endosc.  2003 Apr;26(4):183-191.

Diagnosis of Cowden's Disease Based on Gastrointestinal Manifestations

• Park IG
• Myung SJ
• Yang SK
• Chang HS
• Kim TH
• Lee GH
• Jung HY
• Hong WS
• Jung SA
• Kim JH
• Min YI

Abstract

BACKGROUND/AIMS
Cowden's disease is an autosomal dominant hereditary disease characterized by the various hamartomatous and neoplastic lesions of multiple organs. We analyzed gastrointestinal manifestations of 5 cases of Cowden's disease and suggest several findings which are helpful to gastroenterologists for the early diagnosis.
METHODS
The clinical characteristics of 5 unrelated patients with Cowden's disease were evaluated. Four patients were male, one patient was female, and their ages at the time diagnosis ranged from 17 to 49 years. All patients had the pathognomonic mucocutaneous lesions and thyroid nodules.
RESULTS
In all patients, the esophagus was affected by acanthosis. In 4 patients, the stomach was affected by numerous variable sized polyps. In 4 patients, the duodenum was involved by several polyps. In 4 patients, the entire small bowel and in one patients, only the terminal ileum was affected by numerous polyps. In all patients, the colon, especially the sigmoid colon and rectum, showed numerous variable sized polyps. Family history was positive for stomach cancer in two patients.
CONCLUSIONS
Cowden's disease should be considered in patients with esophageal acanthosis among patients with colonic polyposis, although the mucocutaneous lesions, unfamiliar to gastroenterolgists, are pathognomonic criteria for the diagnosis.

Keyword

Cowden's disease; Esophageal acanthosis; Colonic polyposis

MeSH Terms

Colon
Colon, Sigmoid
Diagnosis*
Duodenum
Early Diagnosis
Esophagus
Female
Genetic Diseases, Inborn
Hamartoma Syndrome, Multiple*
Humans
Ileum
Male
Polyps
Rectum
Stomach
Stomach Neoplasms
Thyroid Nodule