Search
for

    Did you mean Netherton Syndrome?
    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

    Sort by

    Research 30 of 285

    1. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    2. Netherton's syndrome and ichthyosis linearis circumflexa. PubMed · 1970 · 15 citations
    3. Canestick Lesion of Vellus Hair in Netherton's Syndrome Archives of Dermatology · 1985 · 9 citations
    4. Recurrent bacterial vaginosis and Netherton's syndrome International Journal of STD & AIDS · 1999 · 4 citations
    5. [Netherton's syndrome in two sisters]. PubMed · 2002 · 3 citations
    6. NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA Archives of Dermatology · 1970 · 2 citations
    7. Trichorrhexis Invaginata and Netherton’s Syndrome 2012
    8. Netherton's Syndrome. The Nishinihon Journal of Dermatology · 1998
    9. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    10. Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome Pediatric dermatology · 2007 · 42 citations
    11. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    12. Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome Indian Journal of Paediatric Dermatology · 2025
    13. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025
    14. Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review · 2025
    15. Vulvovaginal involvement in Netherton syndrome: A case report JAAD case reports · 2024
    16. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    17. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    18. 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
    19. Successful induction of oral tolerance in Netherton syndrome Allergologia et immunopathologia · 2011 · 11 citations
    20. Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control Journal of Clinical Immunology · 2024 · 5 citations
    21. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    22. Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome Acta Dermato Venereologica · 2020 · 3 citations
    23. Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab Journal of Dermatological Treatment · 2025 · 1 citations
    24. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    25. Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata Figshare · 2026
    26. Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata Figshare · 2026
    27. Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments. PubMed · 2025
    28. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    29. 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome Journal of Investigative Dermatology · 2024
    30. 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome Journal of Investigative Dermatology · 2024