Korean J Gastrointest Endosc > Volume 26(4); 2003 > Article
Korean Journal of Gastrointestinal Endoscopy 2003;26(4): 183-191.
소화관 발현양상에 기초한 Cowden병의 진단
울산대학교 의과대학 서울아산병원 소화기내과, *이화여자대학교 목동병원 소화기내과
Diagnosis of Cowden's Disease Based on Gastrointestinal Manifestations
Il Gwon Park, M.D., Seung-Jae Myung, M.D., Suk-Kyun Yang, M.D., Hye-Sook Chang, M.D.,
Division of Gastroenterology, Department of Internal Medicine, University of Ulsan College of Medicine,
Backgroud/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.
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.
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.
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. (Korean J Gastrointest Endosc 2003;26:183⁣191)
Key Words: Cowden's disease, Esophageal acanthosis, Colonic polyposis
주요어: Cowden병, 식도 극세포증, 대장 용종증
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