Diagnosis of Cowden's Disease Based on Gastrointestinal Manifestations.
- Author:
Il Gwon PARK
1
;
Seung Jae MYUNG
;
Suk Kyun YANG
;
Hye Sook CHANG
;
Tae Hun KIM
;
Gin Hyug LEE
;
Hwoon Yong JUNG
;
Weon Seon HONG
;
Sung Ae JUNG
;
Jin Ho KIM
;
Young Il MIN
Author Information
1. Division of Gastroenterology, Department of Internal Medicine, University of Ulsan College of Medicine, Asan Medical Center, Korea. sjm5675@amc.seoul.kr
- Publication Type:Original Article
- Keywords:
Cowden's disease;
Esophageal acanthosis;
Colonic polyposis
- MeSH:
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
- From:Korean Journal of Gastrointestinal Endoscopy
2003;26(4):183-191
- CountryRepublic of Korea
- Language:Korean
-
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.
