2024-12-2920240004-838010.1111/ajd.142342-s2.0-85186633011https://doi.org/10.1111/ajd.14234https://hdl.handle.net/20.500.14288/22072Netherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.1820+53G>A, in the SPINK5 gene. Notably, this is the first documented instance of homozygosity for this particular variant. Despite the absence of a specific treatment, both patients achieved total clearance of the skin lesions, and a significant decrease in total IgE levels was documented.DermatologyJournal article1440-09601177666600001Q240190