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    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.

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    Research 10 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
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