Treatment of Netherton syndrome with dupilumab

Background Netherton syndrome (NS) is a rare autosomal recessive skin disease caused by loss of function mutations in SPINK5 gene (serine protease inhibitor of kazal type 5) encoding LEKTI (lymphoepitelial kazal-type-related inhibitor). Its clinical presentation includes congenital ichthosis, hair shaft abnormalities (bamboo hair or trichorrhexis invaginata) and atopic diathesis. No specific therapy for NS has been identified at the moment. Objective To explore the clinical effects that type 2 cytokines blockage with dupilumab has in a patient with NS. Methods A 29-year-old woman with NS and severe atopic manifestations was treated with dupilumab. Clinical monitoring was performed over 6 months. We also reviewed the clinical effects reported by other authors while treating NS patients with dupilumab. Results In our patient, dupilumab induced a rapid and sustained reduction of pruritus, scaling and erythema. Only ten cases of patients with NS treated with dupilumab are reported in the literature, including ours. In general, dupilumab improved most of patients’ clinical manifestation, especially pruritus. Only two adverse events were reported by other authors, namely a case of conjunctivitis and a case of bacterial infection. Conclusion NS is a rare genodermatosis that could cause severe complication and impact patients’ quality of life. In NS patients inhibition of IL-4 and IL-13 signaling was associated with remarkable clinical improvements, especially in controlling pruritus. Our data support the use of dupilumab for controlling skin manifestation and symptoms of NS.