WebSep 19, 2024 · Netherton syndrome (NS) is an orphan disease characterized by congenital ichthyosis, hair abnormalities, and atopy, with limited treatment options. We achieved temporary improvement only during the initial 6 weeks of treatment with dupilumab, which differs from the sustained improvement observed in 2 other recently published cases. WebApr 6, 2007 · Netherton syndrome (NS) is a severe autosomal recessive skin disorder characterized by congenital ichthyosiform erythroderma, hair shaft abnormalities, and atopic diathesis. Recently, pathogenic mutations were identified in serine protease inhibitor Kazal-type 5 (SPINK5), the gene that encodes lympho-epithelial Kazal-type related inhibitor …
Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study
WebNational Center for Biotechnology Information WebNov 6, 2024 · Netherton syndrome (NS), also known as Comèl-Netherton syndrome, was clinically described in 1964 by Wilkinson et al1 and is characterized by the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis.1 The single entities, ichthyosis linearis circumflexa and the “bamboo hair” were previously described by … greatpayback state.co.us
Netherton syndrome: a case report and review of the …
WebNov 10, 2024 · The initial short‐term studies suggested the therapeutic window was similar for the major clinical types of ichthyosis (except Netherton syndrome for which cutaneous toxicity usually exceeds benefit). However, individuals with ichthyosis have varying severity of disease, and thus tolerance of retinoids, which affects dosing. WebNov 16, 2024 · Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy.There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing … WebMar 30, 2024 · BackgroundComèl-Netherton syndrome (NS) is a rare disease caused by pathogenic variants in the SPINK5 gene, leading to severe skin barrier impairment and proinflammatory upregulation. Given the severity of the disease, treatment of NS is challenging. Current treatment regimens are mainly topical and supportive. Although … floor manager in restaurant