The phakomatoses

Neuroimaging Clin N Am. 2004 May;14(2):139-48, vii. doi: 10.1016/j.nic.2004.03.008.


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.

Publication types

  • Review

MeSH terms

  • Genes, Tumor Suppressor / physiology
  • Humans
  • Nervous System / diagnostic imaging
  • Nervous System / pathology
  • Neurocutaneous Syndromes / diagnostic imaging
  • Neurocutaneous Syndromes / genetics*
  • Neurocutaneous Syndromes / pathology
  • Radiography