21 citations
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September 2013 in “Pediatric Dermatology” This case report describes three patients with Netherton syndrome who experienced growth hormone deficiency and improved growth rates following growth hormone therapy.
87 citations
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January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.
June 2026 in “Ginekologia Polska” This study found that supplementation with micronized and emulsified ferric pyrophosphate effectively improved lab test results and reduced iron deficiency symptoms in patients aged 19-70, with the majority reporting good tolerance and few side effects.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.