In:
Australasian Journal of Dermatology, Wiley, Vol. 65, No. 3 ( 2024-05)
Abstract:
Netherton 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.
Type of Medium:
Online Resource
ISSN:
0004-8380
,
1440-0960
Language:
English
Publisher:
Wiley
Publication Date:
2024
detail.hit.zdb_id:
2003697-8