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GlossarySPINK5

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 Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

372 citations , December 2004 in “Nature Genetics”

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

research 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

June 2026 in “Figshare”

Dupilumab improved hair and skin in a woman with Netherton syndrome.

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

research 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

June 2026 in “Figshare”

Dupilumab improved hair and skin in a woman with Netherton syndrome.

research 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

June 2026 in “Case Reports in Dermatology”

Dupilumab improved hair and skin in a woman with Netherton syndrome.

research Epidermal differentiation: The role of proteases and their inhibitors

118 citations , January 2004 in “European Journal of Cell Biology”

Balanced protease activity is crucial for healthy skin and hair development.

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