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[Translated article] ICHTHYOSIS: Clinical and Molecular Update. Part 1: Introduction and Non-Syndromic Ichthyoses.

C Gutiérrez-Cerrajero1, R González-Sarmiento1, Á Hernández-Martín2

  • 1Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, Salamanca, Spain; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain.

Actas Dermo-Sifiliograficas
|March 13, 2025
PubMed
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Ichthyoses are genetic skin diseases causing erythema and scaling due to epidermal barrier dysfunction. This review details ichthyosis pathophysiology and updates non-syndromic forms, including genetic and clinical insights.

Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Ichthyoses are a group of genetic skin disorders characterized by erythema, scaling, and epidermal barrier defects.
  • These conditions manifest from birth, follow Mendelian inheritance patterns, and result from disrupted epidermal differentiation.
  • Ichthyoses are classified as non-syndromic (exclusive epidermal dysfunction) or syndromic (involving extracutaneous manifestations).

Purpose of the Study:

  • To review the pathophysiology of ichthyoses.
  • To provide an updated clinical and genetic overview of non-syndromic ichthyoses.
  • To discuss the molecular mechanisms underlying skin barrier formation in ichthyosis.

Main Methods:

  • Literature review of ichthyosis pathophysiology, genetics, and clinical classifications.
Keywords:
Desórdenes de la queratinizaciónDisorders of cornificationGenodermatosisIchthyosisIctiosisReviewRevisión

Related Experiment Videos

  • Analysis of recent molecular findings and newly characterized non-syndromic ichthyoses.
  • Synthesis of information on causal genes, protein functions, and their role in skin barrier disruption.

    • Main Results:

    • Significant advancements in understanding the molecular basis of ichthyosis have identified numerous causal genes and protein functions.
    • Non-syndromic ichthyoses are comprehensively reviewed, including established and recently identified entities.
    • The review highlights the disruption of epidermal differentiation as the common pathogenic mechanism across various ichthyosis types.

    Conclusions:

    • Knowledge of ichthyosis molecular mechanisms has rapidly advanced, improving diagnostic and therapeutic potential.
    • The review provides a consolidated update on non-syndromic ichthyoses, crucial for clinical management and research.
    • Understanding protein functions encoded by causal genes is key to elucidating ichthyosis pathogenesis and developing targeted interventions.