Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

    September 2015 in “ International Journal of Molecular Sciences ”
    Tao Wang, Chenchen Xu, Zhou Xi-ping, Chunjia Li, Hongbing Zhang, Bill Q. Lian, Jonathan J. Lee, Jun Shen, Yuehua Liu, Christine G. Lian
    TLDR A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
    Researchers identified a homozygous nonsense variant c.814C>T (p.Arg272*) in the ALOXE3 gene in an 11-year-old boy with non-bullous congenital ichthyosiform erythroderma (NBCIE) and superimposed bullous Majocchi’s granuloma. This mutation led to significant skin barrier dysfunction, resulting in severe epidermal scaling, multifocal hair loss, and erythema, and increased susceptibility to Trichophyton rubrum infection. The patient responded well to oral terbinafine antifungal treatment. The study underscored the critical role of ALOXE3 in maintaining skin integrity and highlighted the importance of genetic analysis in diagnosing and understanding complex skin disorders, suggesting potential avenues for targeted therapeutic interventions.
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