Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review

Australas J Dermatol. 2024 Feb 28. doi: 10.1111/ajd.14234. Online ahead of print.ABSTRACTNetherton 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.PMID:38419182 | DOI:10.1111/ajd.14234
Source: The Australasian Journal of Dermatology - Category: Dermatology Authors: Source Type: research