Work

Netherton syndrome presenting with generalized erythroderma in a preterm neonate: Diagnostic and therapeutic challenges

Year: 2026

Type: article

Abstract: Netherton syndrome (NS) is a rare, severe autosomal recessive genodermatosis first described by Comèl in 1949 as ichthyosis linearis circumflexa and later by Netherton in 1958, who identified the characteristic hair shaft defect now known as trichorrhexis invaginata.1,2 NS results from biallelic pathogenic variants in the SPINK5 gene located on chromosome 5q32, encoding lymphoepithelial Kazal-type-related inhibitor.2,3 Clinically, NS typically presents in neonates or early infancy with generalized ichthyosiform erythroderma or scaly erythroderma.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2026.02.052

Authors: Zahra Khodabakhshian, Naser Tayyebi Meibodi, Ahmad Reza Taheri

Institutions: Mashhad University of Medical Sciences, Emam Reza Hospital

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $750