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Familial diffuse gastroesophageal leiomyomatosis: A presentation in a mother and her son with Alport syndrome  

Moon, Song-Mi (Department of Internal Medicine, Kyung Hee University College of Medicine)
Chang, Young-Woon (Department of Internal Medicine, Kyung Hee University College of Medicine)
Jang, Jae-Young (Department of Internal Medicine, Kyung Hee University College of Medicine)
Kim, Yoon-Wha (Department of Pathology, Kyung Hee University College of Medicine)
Kim, Hyo-Jong (Department of Internal Medicine, Kyung Hee University College of Medicine)
Kim, Byung-Ho (Department of Internal Medicine, Kyung Hee University College of Medicine)
Chang, Rin (Department of Internal Medicine, Kyung Hee University College of Medicine)
Publication Information
The Korean Journal of Medicine / v.79, no.2, 2010 , pp. 171-176 More about this Journal
Abstract
Diffuse gastroesophageal leiomyomatosis is a rare, benign neoplastic condition characterized by thickening of the esophageal wall as a result ofaberrant smooth muscle proliferation. Gastroesophageal leiomyomatosis may occur in isolation or as a familial disorder and has been associated with other conditions, such as Alport syndrome. Alport syndrome is a hereditary disorder of basement membrane type IV collagen, characterized by progressive nephritis, sensorineural deafness and ocular abnormalities. In this article, we present an interesting case of gastroesophageal leiomyomatosis occurring in a single family in whichthe mother and her son had Alport syndrome. This case is the first report in Korea that gastroesophageal leiomyomatosis is associated with two generations of Alport syndrome.
Keywords
Leiomyomatosis; Alport syndrome;
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