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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, España; Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, España.

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Summary

Ichthyoses are genetic skin disorders causing erythema and skin thickening due to epidermal barrier dysfunction. This review updates the clinical and genetic understanding of non-syndromic ichthyoses.

Keywords:

Desórdenes de la cornificación Disorders of cornification Genodermatosis Ichthyosis Ictiosis Review Revisión

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Area of Science:

Dermatology
Genetics
Molecular Biology

Background:

Ichthyoses are a diverse group of inherited skin diseases characterized by erythema, skin thickening, and scaling.
These conditions result from disruptions in epidermal differentiation and skin barrier formation.
Ichthyoses are classified as non-syndromic or syndromic, depending on extracutaneous manifestations.

Purpose of the Study:

To provide an updated overview of ichthyosis physiopathology.
To review the clinical and genetic landscape of non-syndromic ichthyoses.
To discuss recent advancements in understanding the molecular mechanisms underlying these disorders.

Main Methods:

Literature review of ichthyosis research.
Analysis of clinical classifications and genetic data.
Synthesis of information on protein functions and skin barrier formation.

Main Results:

Significant progress has been made in identifying causal genes and understanding protein functions in ichthyosis.
The review details the physiopathology and provides a clinical and genetic update on non-syndromic ichthyoses.
Knowledge of molecular mechanisms impacting skin barrier formation has substantially improved.

Conclusions:

Ichthyoses represent a significant group of genetic disorders affecting skin barrier function.
Continued research into molecular mechanisms is crucial for understanding and potentially treating these conditions.
This review consolidates current knowledge on non-syndromic ichthyoses, aiding further investigation.