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Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.
J Clin Immunol
November 2024
Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstraße 4 , Munich, European Union (EU), D-80337 , Germany.
Purpose: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed.
Methods: Case report of a 9-week-old infant with NS treated with dupilumab off-label.
Biologics in congenital ichthyosis: are they effective?
Br J Dermatol
January 2025
Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Background: Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients' quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in congenital ichthyoses has raised the possibility of repurposing currently available biologics.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Interleukin-36 Is Highly Expressed in Skin Biopsies from Two Patients with Netherton Syndrome.
Dermatopathology (Basel)
August 2024
Department of Dermatology and Pathology, University of California San Francisco, San Francisco, CA 94143, USA.
Netherton syndrome (NS) is a rare autosomal recessive disorder that occurs due to a loss-of-function mutation in SPINK5; this loss results in significant inflammation, as well as perturbations of the skin barrier's integrity and functionality. While it is unclear which inflammatory pathways contribute to the development of NS, recent studies have demonstrated the expression of interleukin (IL)-17/IL-36, as well as several Th2 cytokines. Consequently, immunohistochemistry (IHC) with IL-36 may serve as a potential tool for aiding the histopathological diagnosis of this condition.
View Article and Find Full Text PDFNetherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review.
Cureus
June 2024
Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, THA.
Article Synopsis
- Netherton syndrome (NS) is a rare genetic disorder that presents with three main features: skin conditions, hair abnormalities, and allergic tendencies.
- The cases discussed involved patients with serious skin issues, frequent infections, and allergy-related problems, where microscopic hair examination showed specific hair defects.
- Genetic testing revealed harmful mutations in the SPINK5 gene, and better skincare and nutrition could enhance the patients' overall well-being.
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