Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification

    Matthias Schmuth, Verena Martinz, Andreas R. Janecke, Christine Fauth, Anna Schossig, Johannes Zschocke, Robert Gruber
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    TLDR Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
    Inherited ichthyoses, a group of generalized Mendelian disorders of cornification, were characterized by visible scaling and/or hyperkeratosis affecting most or all of the skin. These conditions were caused by mutations in various genes crucial for keratinocyte differentiation and epidermal barrier function. Diagnosing specific entities posed challenges for nonspecialists due to common clinical presentations. The review provided an algorithmic approach to help clinicians use diagnostic clues to narrow down differential diagnoses and guide further testing and treatment options.
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