The rare phakomatoses

Neuroimaging Clin N Am. 2004 May;14(2):185-217, vii. doi: 10.1016/j.nic.2004.03.012.

Abstract

This article outlines the clinical, central nervous system, and neuropathologic features,pathogenesis, genetics, molecular biology, and neuroimaging characteristics of the rare vascular phakomatoses, melanophakomatoses, and organoid phakomatoses.

Publication types

  • Review

MeSH terms

  • Brain / pathology
  • Face / pathology
  • Humans
  • Neurocutaneous Syndromes / diagnostic imaging*
  • Neurocutaneous Syndromes / genetics
  • Neurocutaneous Syndromes / pathology*
  • Radiography
  • Skin / pathology
  • Syndrome
  • Vascular Diseases / diagnostic imaging*
  • Vascular Diseases / genetics
  • Vascular Diseases / pathology*