The phakomatoses

Academic Article


  • 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. As clinical trials are implemented for these disorders, is expected to play an increasingly important role in providing quantifiable endpoints to determine the effectiveness of new therapies.
  • Published In

    Digital Object Identifier (doi)

    Author List

  • Korf BR
  • Start Page

  • 139
  • End Page

  • 148
  • Volume

  • 14
  • Issue

  • 2