Netherton Syndrome – Responding to Oral Retinoids

    Vathsalya Vijay, Manobalan Karunanandhan, Yogindher Singh
    TLDR Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
    Netherton syndrome (NS) is a rare genetic disorder characterized by ichthyosis linearis circumflexa, hair shaft abnormalities, and atopic diathesis. This case study discusses a 7-year-old boy with NS, presenting with itchy lesions and hair abnormalities, who showed complete resolution after 2 months of treatment with oral Acitretin. The study highlights the importance of considering NS in atopic children with similar symptoms. Diagnosis is supported by clinical features and can be confirmed through genetic testing for SPINK5 mutations. Treatment typically involves topical emollients, corticosteroids, and systemic options like retinoids.
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