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A practical approach to ichthyoses with systemic manifestations.

S Saral1,2, A Vural3, A Wollenberg2

  • 1Department of Dermatology and Venereology, Ankara University, Ankara, Turkey.

Clinical Genetics
|July 6, 2016
PubMed
Summary
This summary is machine-generated.

Inherited ichthyoses are rare genetic skin disorders with many subtypes. Neurological symptoms are common and aid in diagnosing these complex

Keywords:
congenitalhairichthyosisinheritedneurologicalsyndromesystemic

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Area of Science:

  • Dermatology
  • Genetics
  • Neurology

Background:

  • Inherited ichthyoses encompass numerous rare clinical-genetic subtypes.
  • These conditions often present with severe systemic, medical, cosmetic, and social challenges.
  • High consanguinity rates in certain regions contribute to the prevalence of syndromic ichthyosis.

Purpose of the Study:

  • To enhance clinician understanding of ichthyosis syndromes.
  • To present a symptomatology-based diagnostic approach focusing on neurological involvement.
  • To review ichthyosis syndromes, emphasizing neurological manifestations.

Main Methods:

  • Literature review of ichthyosis syndromes.
  • Focus on the association between ichthyosis and neurological symptoms.
  • Symptomatology-based approach for diagnosis.

Main Results:

  • The nervous system is frequently involved in ichthyosis syndromes, second only to skin.
  • Association of ichthyosis with neurological symptoms is a key diagnostic indicator.
  • Many patients remain undiagnosed or improperly managed due to complexity and rarity.

Conclusions:

  • A symptomatology-based approach, particularly noting neurological signs, can improve ichthyosis syndrome diagnosis.
  • Increased clinician awareness of neurological involvement is crucial for managing these rare disorders.
  • Further interest in the complex field of ichthyosis syndromes is warranted.