Severe Form of Keratitis–Ichthyosis–Deafness (KID) Syndrome Associated with Septic Complications

    June 2010 in “ The Journal of Dermatology ”
    Kunitaka HARUNA, Yasushi Suga, Ami Oizumi, Yuki Mizuno, Hideharu Endo, Toshiaki Shimizu, Toshio Hasegawa, Shigaku Ikeda
    TLDR Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
    A 1-year-old Japanese girl with a severe form of keratitis–ichthyosis–deafness (KID) syndrome, characterized by ichthyotic erythroderma, hyperkeratosis, alopecia, and sensory-neural hearing loss, was found to have a novel de novo mutation in the GJB2 gene (A88V). Despite various treatments, she experienced recurrent infections and eventually died of cardiac failure due to septic shock at 3 years and 5 months old. The study highlighted the potential link between connexin mutations and increased susceptibility to severe infections, emphasizing the need for careful monitoring of infants with severe KID syndrome for systemic infections.
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