Semidominant Inheritance in Epidermolytic Ichthyosis

    November 2013 in “ Journal of Investigative Dermatology ”
    Janna Nousbeck, Gilly Padalon‐Brauch, Dana Fuchs‐Telem, Shirli Israeli, Ofer Sarig, Ruth Sheffer, Eli Sprecher
    TLDR Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
    The study reported a case of semidominant inheritance in a 2-year-old female with epidermolytic ichthyosis (EI) due to a homozygous G>A mutation in the KRT1 gene, resulting in the p.E182K amino acid substitution. Both parents, who were first-degree cousins, carried the mutation in a heterozygous state and had mild skin symptoms. This finding expanded the understanding of EI inheritance, suggesting that mild KRT1 mutations might cause common callosities, contrasting with previously known dominant and recessive patterns.
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