Netherton syndrome (NS) is a rare autosomal recessive genetic disease caused by SPINK5 gene mutation without specific effective therapies available. We report a case of NS confirmed by whole exome sequencing of DNA using peripheral blood, and Sanger sequencing found two new mutations associated with her clinical presentation located at SPINK5 gene c.1220+5G>A from her father and c.1870delA from her mother. The patient was treated with dupilumab (600 mg at week 0, then 300 mg every 2 weeks, s.c.). The clinical manifestation and dermoscopic images of the patient's hair showed remarkable improvement after dupilumab treatment with no adverse effects. We also reviewed previous reports to learn more about the therapeutic effect and adverse reactions of NS treated with dupilumab.
Keywords: Netherton syndrome; SPINK5 gene; bamboo hair; dupilumab; genodermatosis.
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