Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports.

Abstract

Background: Netherton syndrome (NS) is a rare, autosomal recessive disease resulting from a mutation in the pathogenic variants in the Kazal type 5 (SPINK5) gene. In recent years, the targeted treatment of biological agents has increasingly emerged as a focal point of research.

Case reports: We reported a 4-month-old child and 19-year-old female, both presenting with symptoms including erythema, scaling, and recurring episodes. Subsequently, genetic testing identified a defective SPINK5 gene, leading to a diagnosis of NS. The child received treatment with dupilumab, while the 19-year-old woman alternated between using dupilumab and secukinumab. Both patients had swift and enduring enhancement of skin lesions during the follow-up period.

Conclusion: NS is an uncommon and frequently misdiagnosed hereditary dermatological disease. The management strategies for this condition are diverse, and no consensus exists. We implemented various biologic regimens for distinct patients, all demonstrating favorable outcomes and satisfactory tolerance. Besides, monitoring and evaluating the long-term safety of biologics in combination is essential.