Document Type

Article

Publication Title

Cureus

Abstract

Netherton syndrome is an autosomal recessive genodermatosis caused by biallelic mutations in the SPINK5 gene, a gene that codes for lymphoepithelial Kazal-type-related inhibitor 1 (LEKT1) protein. This disorder is characterized by erythroderma, ichthyosis, hair shaft abnormalities, and immune dysregulation. While there is increasing research and recognition of Netherton syndrome, much remains unknown, with limited knowledge of the history, manifestations, and responses to therapies. The purpose of this study was to review case reports of Netherton’s to draw conclusions from patient demographics, symptoms, treatment, and outcomes. A systematic review of 30 case reports and clinical studies on Netherton syndrome was conducted, including only patient-level clinical data of studies in English. Data were extracted via full-text review, organized into comparative tables, and analyzed for common patterns in symptoms, diagnostic techniques, and treatments. Biologic therapies consistently reduced Netherton syndrome effects with improvements in symptoms and infection rates. No cases of complete remission have been reported from the cases examined. With no standardized treatment in place, larger studies are needed. While biologic therapies have offered improvement of symptoms for patients with Netherton syndrome, remission is still not achievable. Treatment outcomes are variable and require an individualized technique in patient care. Genetic testing is the most valuable for diagnosis, but it is not always accessible. Lack of standardized therapy exhibits a need for larger studies to be conducted in order to improve patient care.

DOI

10.7759/cureus.98322

Publication Date

12-2-2025

Keywords

biallelic mutations, genodermatosis, immune dysregulation syndrome, lekt1, spink5

ISSN

2168-8184

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