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

    Sort by

    Research 30 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
    11. Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome Acta Dermato Venereologica · 2020 · 3 citations
    12. Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab Journal of Dermatological Treatment · 2025 · 1 citations
    13. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    14. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    15. Netherton Syndrome SKINmed Dermatology for the Clinician · 2003 · 1 citations
    16. 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
    17. 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
    18. 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 Case Reports in Dermatology · 2026
    19. Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images Clinical Case Reports · 2025
    20. Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study Вопросы современной педиатрии · 2025
    21. Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome Indian Journal of Paediatric Dermatology · 2025
    22. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025
    23. Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments. PubMed · 2025
    24. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    25. Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report 2025
    26. Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review · 2025
    27. LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome Journal of Investigative Dermatology · 2024
    28. 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome Journal of Investigative Dermatology · 2024
    29. 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome Journal of Investigative Dermatology · 2024
    30. Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report Curēus · 2024