PDF(Pubmed)
Abstract：
Netherton syndrome (NS) is rare and multisystemic congenital skin disorder classically distinguied as a triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata (TI), and an atopic diathesis. Recent advances in pathogenesis have explored the role of IL-23/Th17 pathway in NS. Herein, we present a 17 years old girl harbouring homozygous four base pair deletion in exon 26 of the SPINK5 gene, presented with pruritus, scaling, dry skin and generalized eczematous lesions. She was administered anti IL17A (subcutaneous secukinumab) therapy. The treatment was well tolerated and resulted in a favourable clinical response, reduction of the IL17A gene expression and CD4 + Th17 cell population after 6 months which revealed an abrogation of Th17-skewing during therapy.
摘要：
Netherton综合征（NS）是罕见的多系统先天性皮肤病，通常被区分为先天性鱼鳞状红皮病的三联征，内翻三毛(TI)，和特应性素质。发病机制的最新进展已经探讨了IL-23/Th17通路在NS中的作用。在这里，我们提出了一个17岁的女孩，在SPINK5基因的外显子26中存在纯合四碱基对缺失，出现瘙痒，缩放，皮肤干燥和全身性湿疹性病变。她被给予抗IL17A(皮下苏金单抗)治疗。治疗耐受性良好，并导致良好的临床反应，6个月后IL17A基因表达和CD4+Th17细胞数量减少，这表明治疗期间Th17偏斜的废除。
