Netherton's Syndrome in Two Sisters

    June 2002 in “ PubMed
    A. Marceline van Furth, R P Boontje, M J Louwers, Marijke R. Canninga‐van Dijk, T.J. Stoof
    TLDR Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
    Two sisters, aged 4.5 years and 6 months, were diagnosed with Netherton's syndrome, characterized by serious erythrodermia, poor hair growth, and poor overall growth despite a hypoallergenic diet. The diagnosis was confirmed by the presence of ichthyosis linearis circumflexa and trichorrhexis invaginata (bamboo hair) observed in a hair shaft. This autosomal recessive condition involved defective production or maintenance of the stratum corneum and was often associated with an atopic constitution. Treatment included skin ointments and a high-energy diet to compensate for protein loss through the skin.
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