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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 Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings

      124 citations , January 1995 in “ˆThe ‰journal of allergy and clinical immunology/Journal of allergy and clinical immunology/˜The œjournal of allergy and clinical immunology”
      This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

      research Netherton's syndrome and ichthyosis linearis circumflexa.

      15 citations , April 1970 in “PubMed”
      This letter describes a case of a 22-year-old woman with ichthyosis serpentina and related symptoms, suggesting it as a variant form of ichthyosis associated with bamboo hair, without necessarily including atopic features.

      research Canestick Lesion of Vellus Hair in Netherton's Syndrome

      9 citations , April 1985 in “Archives of Dermatology”
      This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.

      research [Netherton's syndrome in two sisters].

      3 citations , June 2002 in “PubMed”
      This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.
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