Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control

J Clin Immunol. 2024 Nov 15;45(1):42. doi: 10.1007/s10875-024-01837-z.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies, Monoclonal, Humanized* / adverse effects
  • Antibodies, Monoclonal, Humanized* / therapeutic use
  • Female
  • Humans
  • Infant
  • Male
  • Netherton Syndrome* / diagnosis
  • Netherton Syndrome* / drug therapy
  • Skin / pathology
  • Treatment Outcome

Substances

  • Antibodies, Monoclonal, Humanized
  • dupilumab