ReviewSkin appendage disorders2021
Netherton Syndrome: Case Report and Review of the Literature.
Review in Skin appendage disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Gene variants associated with skin barrier dysfunction in atopic dermatitis: a systematic review and meta-analysis.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Pooled it
- From Misdiagnosis to Molecular Insight: Lessons from Two ARCI Siblings Initially Treated as Netherton Syndrome.Dermatology practical & conceptual · 2026Article
- Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images.Clinical case reports · 2026Article
- Bilateral renal vein thrombosis in a preterm with Netherton syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Preterm twin infant with Netherton syndrome.BMJ case reports · 2025Article
- Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.Immunologic research · 2025Review
- Global Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment.Life (Basel, Switzerland) · 2025Review
- Considerations for defining and diagnosing generalized pustular psoriasis.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Review
- Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism inFrontiers in immunology · 2025Article
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report.Case reports in oncological medicine · 2025Article
- TThe Journal of allergy and clinical immunology · 2024Review
- Article
- Vulvovaginal involvement in Netherton syndrome: A case report.JAAD case reports · 2024Article
- Severe Hypernatremia as Presentation of Netherton Syndrome.Global medical genetics · 2023Article
- Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic options.Wiener medizinische Wochenschrift (1946) · 2023Article
- Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.Pathogens (Basel, Switzerland) · 2023Review
- Significant response to Pembrolizumab for metastatic cutaneous squamous cell carcinoma in patient with Netherton syndrome.Annals of medicine and surgery (2012) · 2022Article
- A novel mutation inFrontiers in genetics · 2022Article
- Olympic and Board Game Dermatology: Exploring Eponyms Linking Skin Conditions to Sports and Strategy Games.Indian dermatology online journalArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic variants in the SPINK5 gene. It is characterized by a triad consisting of atopic diathesis, ichthyosis linearis circumflexa, and hair shaft abnormalities. Ichthyosis linearis circumflexa can be confused with atopic dermatitis leading to a delayed diagnosis. Furthermore, difficulty in making the differential diagnosis with other atopiform, erythrodermic, and ichthyosiform entities that exhibit hair shaft abnormalities represent a challenge. Trichoscopy is an accessible and noninvasive auxiliary diagnostic tool in these cases; the hair shaft abnormalities found in NS are bamboo, golf tee, and matchstick hairs. Identification of a pathogenic variant in the SPINK5 gene through genetic testing is necessary to confirm the diagnosis. Multiple treatment options are available including topical therapy with emollients, corticosteroids, calcineurin inhibitors, antiseptics, and narrowband UVB phototherapy. Systemic treatments comprehend intravenous immunoglobulins, and advances in the understanding of the pathophysiology of NS have led to more directed therapies with biologics such as infliximab, ixekizumab, secukinumab, ustekinumab, and dupilumab. Treatments currently under investigation include inhibitors of kallikrein 5, cathelicidins, drugs activating the transcription factor nuclear factor erythroid-derived 2-like 2, and gene therapy using autologous keratinocytes induced with a lentiviral vector encoding SPINK5.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.