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Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.

Anna Carolina Paiva Costa T Figueiredo1, Nikolas Mata-Machado1, Matthew McCoyd1

  • 1Department of Neurology, Stritch School of Medicine, Loyola University Chicago, 2160 S. First Avenue, Maguire Building, Room 2700, Maywood, IL, 60153, USA.

Current Neurology and Neuroscience Reports
|January 14, 2016
PubMed
Summary

Neurocutaneous disorders (NCDs) involve the skin and nervous system. This review highlights NCDs with genetic causes and their neurological and cerebrovascular aspects for neurologists.

Keywords:
Hereditary hemorrhagic telangiectasiaNeurocutaneous disordersNeurofibromatosesPseudoxanthoma elasticumTuberous sclerosis complexVon Hippel-Lindau

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Area of Science:

  • Neurology
  • Genetics
  • Dermatology

Background:

  • Neurocutaneous disorders (NCDs) are a group of developmental conditions affecting the skin, central nervous system (CNS), and peripheral nervous system (PNS).
  • These manifestations stem from the shared ectodermal origin of the affected organs.
  • NCDs exhibit significant genetic heterogeneity.

Purpose of the Study:

  • To provide practicing clinical neurologists with a focused review of NCDs.
  • To emphasize NCDs with a genetic basis and their associated neurological symptoms.
  • To explore the cerebrovascular aspects within the spectrum of NCDs.

Main Methods:

  • Literature review focusing on NCDs with genetic heterogeneity.
  • Analysis of neurological manifestations in relation to specific NCDs.
  • Examination of cerebrovascular involvement in selected NCDs.

Main Results:

  • NCDs encompass a wide range of genetic conditions with diverse neurological presentations.
  • Cerebrovascular complications are a significant concern in certain genetically heterogeneous NCDs.
  • Understanding the genetic underpinnings is crucial for diagnosing and managing neurological symptoms.

Conclusions:

  • Genetic heterogeneity is a key feature of many NCDs.
  • Neurologists must consider NCDs in patients presenting with neurological and cerebrovascular issues.
  • Further research into the genetic basis of NCDs can improve clinical management.