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.
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.
260 citations
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January 2019 in “Pharmaceutics” This study highlights that niosomes, or non-ionic surfactant based vesicles, offer an advantageous drug delivery system due to their stability, cost-effectiveness, and ability to enhance drug bioavailability and targeting efficiency for various therapeutic agents.
11 citations
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June 2025 in “Polymers” This review reports on recent surfactant-based niosome formulations, including those with polysaccharides, for versatile drug delivery applications such as ocular, oral, and transdermal settings, while discussing their limitations and potential prospects.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.
17 citations
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December 2004 in “Bioorganic & Medicinal Chemistry Letters” This study identified N-acyl arylsulfonamides, particularly N-(Boc-piperidine-4-carbonyl)-benzenesulfonamides, as steroid sulfatase inhibitors with improved cellular potency compared to previous compounds.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
April 2014 in “The Journal of Sexual Medicine” This publication compiles abstracts from the 19th Annual Fall Meeting of the Sexual Medicine Society of North America, highlighting advancements and discussions in various areas of sexual medicine without reporting new research results.
1 citations
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July 2022 in “Journal of Drug Delivery Science and Technology” This study found that Spironolactone-loaded ethosomal gels provided superior skin permeation and deposition compared to niosomal gels in rabbit skin, suggesting that ethosomal gels could be a promising formulation for further clinical studies on treating androgenic alopecia.
5 citations
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November 2024 in “Journal of Clinical Immunology” This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.
February 2026 in “Advanced Science” This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
372 citations
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December 2004 in “Nature Genetics” November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
April 2018 in “Clinical and Experimental Health Sciences” This study found that a school-based nutritional program improved adolescents' waist measurements, blood counts, and reduced rates of certain skin and mucosal conditions associated with vitamin deficiency.
38 citations
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November 2016 in “Aaps Pharmscitech” This study found that the nanostructured lipid carrier formulation with a 70:30 solid to liquid lipid ratio significantly increased the dissolution rate, entrapment efficiency, and stability of spironolactone compared to its raw form.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” This study found IL-17/IL-36 signaling to be predominant in both endotypes of Netherton syndrome, with distinct molecular profiles between NS-ILC and NS-SE lesions, offering potential therapeutic targets.
14 citations
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September 2019 in “Forensic Science International Genetics” This study found that hair shaft keratin proteins can be reliably identified from samples as small as 0.12 cm, suggesting their potential forensic utility with typical casework sample sizes.
This study found that niosomal aminexil was more clinically effective for hair growth than conventional aminexil solutions, and that niosomes facilitated aminexil penetration through rat skin without propylene glycol.
July 2023 in “Media Dermato Venereologica Indonesiana” This research discusses Stevens-Johnson syndrome and toxic epidermal necrolysis, life-threatening conditions often induced by immune-mediated drug reactions. Optimal management involves early diagnosis, drug withdrawal, and supportive therapy, though evidence for systemic treatments like corticosteroids and cyclosporin remains variable and lacks randomized controlled trial confirmation.
June 2025 in “Judi Clinical Journal” In this case report, researchers described an exceptionally rare occurrence of a 19-year-old female having three concurrent pilonidal sinuses at intermammary, umbilical, and sacrococcygeal locations, with surgical and conservative treatment leading to favorable healing outcomes.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
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.
2 citations
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April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
17 citations
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May 2021 in “Journal of Cell Science” In this study, the researchers discovered that specific polyamine depletion enhances stemness in hair follicle stem cells through a mechanism independent of mRNA translation.