Research advances of Netherton syndrome

Research advances of Netherton syndrome

Blog Article

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 Relaxation abnormalities, and elevated IgE levels.However, NS patients often suffer from misdiagnosis, delayed treatment, Mask 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.