Purpose: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed.
Methods: Case report of a 9-week-old infant with NS treated with dupilumab off-label.
Results: We report rapid and sustained resolution of allergic inflammation, deep symptom control including normalization of the skin microbiome, and catch-up somatic and psychomotor development without adverse drug reactions.
Conclusion: Due to the high complication rate of NS, especially in the first years of life, we recommend treatment with dupilumab off-label immediately after the diagnosis has been established.
Keywords: Allergic inflammation; Dupilumab; Early infancy; Netherton syndrome.
© 2024. The Author(s).