The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10

    January 2015 in “ JAMA dermatology ”
    I. Spoerri, Michela Brena, Julie De Mesmaeker, Nina Schlipf, Judith Fischer, Gianluca Tadini, Peter Itin, Bettina Burger
    TLDR Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
    The study on Ichthyosis with Confetti (IWC) in 7 patients from Italy and Switzerland identified novel phenotypes and major diagnostic criteria, such as ear malformations, mammillae hypoplasia, and dorsal acral hypertrichosis. Genetic analysis revealed several frameshift mutations in the KRT10 gene, with healthy skin patches resulting from loss of heterozygosity. Two novel polymorphisms in KRT10 were also found among 17 control individuals. The research highlighted the syndromic nature of IWC, suggesting reclassification as a genetic syndrome, and showed that systemic acitretin improved symptoms in most patients. The study provided new insights into the genetic and phenotypic spectra of IWC and its underlying mechanisms.
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