Korean J Gastrointest Endosc.
2004 Jul;29(1):36-40.
A Case of Cowden Disease Associated with Lhermitte-Duclos Disease
- Affiliations
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- 1Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea. jmyang@vincent.cuk.ac.kr
- 2Department of Clinical Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Abstract
- Cowden disease (CD), also known as 'multiple hamartoma syndrome', is a rare autosomal dominant disorder with a high risk of breast, thyroid, or genitourinary malignancies. Lhermitte-Duclos Disease (LDD) is believed to be a hamartomatous overgrowth of cerebellar ganglion cells and currently is considered to be a part of CD. However, the report of the association between LDD and CD has been very unusual. We have recently experienced a 53-year-old man with LDD who had acral keratosis of extremities, gastrointestinal polyposis, and multinodular goiter. To our knowledge, it is the second case of CD associated with LDD in Korea. We report it with a review of the literatures.
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