The rare neurocutaneous disorders update on clinical, molecular, and neuroimaging features

Felipe S. Barros, Victor Hugo R. Marussi, Lázaro L.F. Amaral, Antônio José Da Rocha, Christiane M.S. Campos, Leonardo F. Freitas, Thierry A.G.M. Huisman, Bruno P. Soares

Research output: Contribution to journalReview articlepeer-review

Abstract

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. In this article, we review the clinical features, current pathogenesis, and modern neuroimaging findings of melanophakomatoses, vascular phakomatoses, and other rare neurocutaneous syndromes that may also include tissue overgrowth or neoplastic predisposition.

Original languageEnglish (US)
Pages (from-to)433-462
Number of pages30
JournalTopics in Magnetic Resonance Imaging
Volume27
Issue number6
DOIs
StatePublished - 2018

Keywords

  • Brain MRI
  • Hemimegalencephaly
  • Incontinentia pigmenti
  • MTOR
  • Magnetic resonance imaging
  • Melanosis
  • Neurocutaneous disorders
  • PHACES syndrome
  • Phakomatosis
  • Phosphatase
  • Tensin homolog
  • Vascular malformation

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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