Search
for

    Glossary Netherton Syndrome

    rare genetic disorder causing skin inflammation and brittle hair

    Netherton Syndrome is a rare genetic disorder characterized by chronic skin inflammation, a distinctive hair shaft abnormality called trichorrhexis invaginata (bamboo hair), and a predisposition to allergies and infections. It is caused by mutations in the SPINK5 gene, which affects the skin's barrier function, leading to symptoms like red, scaly skin and brittle hair.

    Related Terms

    Research 10 of 272

    1. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    2. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses Journal of Allergy and Clinical Immunology · 2021 · 59 citations
    3. Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome Pediatric dermatology · 2007 · 42 citations
    4. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    5. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    6. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    7. Successful induction of oral tolerance in Netherton syndrome Allergologia et immunopathologia · 2011 · 11 citations
    8. Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control Journal of Clinical Immunology · 2024 · 5 citations
    9. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    10. [The Netherton syndrome with alopecia and prolinuria]. PubMed · 1978 · 4 citations
    All research results →

    Learn

    — no results

    Try a deeper search in learn →

    Community

    — no results

    Try a deeper search in community →