In this case report, a 7-month-old boy with Netherton syndrome experienced significant improvement in symptoms, including reduced pruritus and increased hair growth, through a combination of intravenous immunoglobulin and dupilumab treatment, which also decreased high serum IgE levels and food-specific IgE antibodies.
33 citations
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March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
33 citations
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June 2016 in “Pediatric Dermatology” This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.
11 citations
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January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.