January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
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.
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.
April 2017 in “IOSR journal of dental and medical sciences” This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
July 2012 in “American Journal of Clinical Pathology” This case report describes a 15-month-old girl with a history of dermatitis, eosinophilic esophagitis, and failure to thrive, leading to a suspected diagnosis of Netherton syndrome.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
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.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
15 citations
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April 1970 in “PubMed” This letter describes a case of a 22-year-old woman with ichthyosis serpentina and related symptoms, suggesting it as a variant form of ichthyosis associated with bamboo hair, without necessarily including atopic features.
9 citations
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April 1985 in “Archives of Dermatology” This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.
4 citations
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March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
3 citations
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June 2002 in “PubMed” This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.
2 citations
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April 1970 in “Archives of Dermatology” This report discusses a case of ichthyosis serpentina, suggesting it as a variant of ichthyosis associated with bamboo hair, although atopy may not be a necessary component.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
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.
372 citations
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December 2004 in “Nature Genetics”
1 citations
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October 2024 in “Journal of Clinical Immunology” This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.
1 citations
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April 2023 in “Indian Journal of Dermatology Venereology and Leprology” This case report describes a young adult with primary follicular mucinosis, successfully treated with topical tacrolimus, resulting in resolution without sequelae.
47 citations
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March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
147 citations
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January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
118 citations
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January 2004 in “European Journal of Cell Biology” Balanced protease activity is crucial for healthy skin and hair development.
74 citations
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July 2008 in “Journal of Dermatological Case Reports” This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.
72 citations
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March 2023 in “Biomolecules” This study reviewed the use of dupilumab, beyond its approved indications for atopic dermatitis and prurigo nodularis, and found effective treatment reports for various chronic inflammatory skin diseases such as bullous autoimmune diseases, eczema, and alopecia areata, highlighting its broad potential in dermatology.
66 citations
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June 2018 in “British Journal of Dermatology” These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
50 citations
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March 2021 in “Journal of investigational allergology & clinical immunology” This review examines existing research and clinical trials on the use of dupilumab for various skin, respiratory, and gastrointestinal disorders, but it reports no new clinical findings.
44 citations
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August 2008 in “Archives of Dermatology” This abstract provides no results; it is a website notification about cookies and general access to JAMA content.
37 citations
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June 2000 in “Experimental dermatology” This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.
36 citations
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August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.