Journal article
The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features
Topics in magnetic resonance imaging, Vol.27(6), pp.433-462
12/2018
DOI: 10.1097/RMR.0000000000000185
PMID: 30516694
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.
Details
- Title: Subtitle
- The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features
- Creators
- Felipe S Barros - Beneficência Portuguesa de São PauloVictor Hugo R Marussi - Beneficência Portuguesa de São PauloLázaro L F Amaral - Beneficência Portuguesa de São PauloAntônio José da Rocha - Faculdade de Ciências Médicas da Santa Casa de São PauloChristiane M S Campos - Beneficência Portuguesa de São PauloLeonardo F Freitas - Beneficência Portuguesa de São PauloThierry A G M Huisman - Johns Hopkins MedicineBruno P Soares - Johns Hopkins Medicine
- Resource Type
- Journal article
- Publication Details
- Topics in magnetic resonance imaging, Vol.27(6), pp.433-462
- DOI
- 10.1097/RMR.0000000000000185
- PMID
- 30516694
- ISSN
- 0899-3459
- eISSN
- 1536-1004
- Language
- English
- Date published
- 12/2018
- Academic Unit
- Radiology
- Record Identifier
- 9984697633702771
Metrics
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