Netherton综合征研究进展

Research advances of Netherton syndrome

Netherton综合征(NS)是由SPINK5基因突变引起的一种罕见隐性遗传性鱼鳞病,其特征是鱼鳞病样红皮病(CIE)和/或迂回线状鱼鳞病(ILC)、毛干异常和IgE水平升高三联症。因三联征并不总是完全存在,NS患者常常面临误诊、治疗延迟,甚至治疗无效的难题。本文全面回顾了NS的发病机制进展、临床特征、组织病理学和免疫组织化学、诊断和鉴别诊断以及治疗进展,以达到早期识别、有效干预NS的目的。

Netherton syndrome(NS)is a rare recessive syndromic ichthyosis due to mutations in the SPINK5 gene characterized by a triad of congenital ichthyosiform erythroderma(CIE)and/or ichthyosis linearis circumflexa(ILC),hair shaft abnormalities,and elevated IgE levels.However,NS patients often suffer from misdiagnosis,delayed treatment,or even ineffective therapy for the triad is not always complete.To achieve identification early and intervention effectively,the paper comprehensively reviewed the pathogenesis progression,clinical features,histopathology and immunohistochemistry,diagnosis and differential diagnosis,and treatment advancement of the NS.