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The phakomatoses
1Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Birmingham, AL 35294, USA. bkorf@uab.edu
Abstract:
The phakomatoses are a diverse set of disorders related principally by a similar tendency to produce patchy manifestations that affect the nervous system and various other tissues. All of the disorders involve the occurrence of benign neoplasms or hamartomatous growths, and all involve the action of a distinct gene that functions as a tumor suppressor. At present, none of the phakomatoses is amenable to effective medical treatment, so management is limited to surveillance and treatment of progressive lesions. The radiologist plays a key role in this management, participating in diagnosis and follow-up of affected patients.
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