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Disorders of the Nervous Tissue01:28

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Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
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Cutaneous Surgical Denervation: A Method for Testing the Requirement for Nerves in Mouse Models of Skin Disease
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Neurocutaneous syndromes.

Nitasha Klar1, Bernard Cohen2, Doris D M Lin1

  • 1Division of Neuroradiology, Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Handbook of Clinical Neurology
|July 20, 2016
PubMed
Summary
This summary is machine-generated.

Neurocutaneous syndromes are congenital disorders affecting skin, eyes, and the nervous system, often inherited and presenting in childhood. Advances in genetics offer hope for better understanding and future treatments for these complex conditions.

Keywords:
CNSKlippel–Trenaunay syndromeSturge–Weber syndromeataxia-telangiectasiaimagingincontinentia pigmentineurocutaneous syndrometuberous sclerosis

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Area of Science:

  • Neurology
  • Genetics
  • Dermatology

Background:

  • Neurocutaneous syndromes (phakomatoses) are congenital disorders involving neuroectodermal and mesodermal development.
  • These conditions commonly affect the skin, eyes, and central nervous system, often presenting in early life.
  • They are characterized by distinctive skin abnormalities and neurological symptoms, with potential for progressive disease and increased cancer risk.

Purpose of the Study:

  • To review the cutaneous and neurologic pathology of selective neurocutaneous syndromes.
  • To emphasize the role of neuroimaging in diagnosing and managing these conditions.
  • To highlight the heterogeneity and progressive nature of these disorders.

Main Methods:

  • Focus on neuroimaging findings in specific neurocutaneous syndromes.
  • Review of clinical presentations, genetic basis, and pathological features.
  • Case-by-case analysis of treatment strategies.

Main Results:

  • Detailed examination of tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, ataxia-telangiectasia, and incontinentia pigmenti.
  • Correlation of genetic mutations with phenotypic expression and disease progression.
  • Identification of characteristic neuroimaging findings for each syndrome.

Conclusions:

  • Neurocutaneous syndromes are heterogeneous, incurable disorders requiring individualized, often palliative, care.
  • Molecular genetics advances are improving understanding of disease mechanisms.
  • Neuroimaging is crucial for diagnosis and management, guiding future therapeutic development.