Case Report: Hair Shaft Normalization and Hair Growth in SPINK5-Syndromic Epidermal Differentiation Disorder (Netherton Syndrome) While on Treatment with Dupilumab: A Novel Therapeutic Approach for Trichorrhexis Invaginata

    June 2026 in “ Case Reports in Dermatology
    Adriana Rendon, Niklas Negele, Knut Schäkel
    TLDR Dupilumab improved hair and skin in a woman with Netherton syndrome.
    This case report discusses a 67-year-old woman with Netherton syndrome (NS), a genetic disorder characterized by skin inflammation and Trichorrhexis invaginata (TI), a hair shaft defect. The patient was treated with dupilumab, a biologic known for addressing cutaneous inflammation. After 3 months, there was significant improvement in skin symptoms and hair quality, with brittle "bamboo" hairs being replaced by normal hair shafts. This suggests that dupilumab may not only control skin inflammation but also promote hair growth in NS, highlighting a novel therapeutic approach for TI.
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