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    Glossary SPINK5

    gene encoding a protein that inhibits specific protein-degrading enzymes

    SPINK5 stands for Serine Peptidase Inhibitor, Kazal Type 5. It is a gene that encodes a protein involved in inhibiting certain enzymes that break down proteins. Mutations in the SPINK5 gene can lead to Netherton syndrome, a condition characterized by skin abnormalities, hair defects, and a predisposition to allergies.

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    Research 30 of 160

    1. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity Nature Genetics · 2004 · 372 citations
    2. 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
    3. 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
    4. 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
    5. Epidermal differentiation: The role of proteases and their inhibitors European Journal of Cell Biology · 2004 · 118 citations
    6. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    7. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    8. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    9. Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome Dermatology · 2014 · 11 citations
    10. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    11. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    12. Current Genetics in Hair Diseases InTech eBooks · 2013 · 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. Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring Biomedical Research and Therapy · 2026
    16. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    17. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    18. Genetics of Alopecia Encyclopedia of Life Sciences · 2012
    19. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025
    20. Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments. PubMed · 2025
    21. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    22. Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report 2025
    23. LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome Journal of Investigative Dermatology · 2024
    24. Netherton Syndrome Harper's Textbook of Pediatric Dermatology · 2019
    25. 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank Journal of Investigative Dermatology · 2022
    26. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    27. Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images Clinical Case Reports · 2025
    28. Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome Acta Dermato Venereologica · 2020 · 3 citations
    29. Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome Pediatric dermatology · 2007 · 42 citations
    30. Successful induction of oral tolerance in Netherton syndrome Allergologia et immunopathologia · 2011 · 11 citations