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Successful treatment with dupilumab of an adult with Netherton syndrome

ATP2C1. Although over 200 mutations in this gene have been reported to date, no reports have clarified the correlations between the site and type of gene mutation and differences in clinical symptoms. It is also unclear why the clinical symptoms of HHD are solely isolated to the skin, despite ATP2C1 being expressed in all tissues. Accumulation of gene mutations and clinical reports will facilitate further elucidation of disease pathogenesis and the development of more effective treatments for HHD.