Affiliation:
1. Department of Dermatology and Venereology Koç University School of Medicine Zeytinburnu Turkey
2. Neurodegeneration Research Laboratory, Suna and Inan Kıraç Foundation KUTTAM, Koç University School of Medicine Zeytinburnu Turkey
Abstract
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.