Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder

    September 2025 in “ OBM Genetics
    Dwinanda Almira Rizkiani, Erliana Tantri Harsono, Raden Roro Rini Andayani, Hanggoro Tri Rinonce, Niken Trisnowati, Retno Danarti
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    TLDR Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
    This case report details a 9-month-old Javanese Indonesian male with Netherton syndrome, a rare genetic disorder linked to SPINK5 gene mutations. The child exhibited extensive erythematous, scaly skin lesions, severe itching, elevated eosinophil count, and high serum immunoglobulin E levels. Trichoscopic examination confirmed trichorrhexis invaginata. While initial treatment with topical corticosteroids offered temporary relief, symptoms returned after tapering. However, low-dose methotrexate significantly improved the skin lesions and pruritus. The report highlights the necessity of early diagnosis and comprehensive management, including skin barrier restoration and inflammation control, to enhance quality of life and minimize complications for Netherton syndrome patients.
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