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    GlossaryLymphoepithelial Kazal-type-related Inhibitor (LEKTI)

    protein regulating skin and hair enzyme activity

    Lymphoepithelial Kazal-type-related Inhibitor (LEKTI) is a protein that plays a crucial role in regulating the activity of certain enzymes involved in skin and hair health. It acts as a serine protease inhibitor, helping to maintain the integrity of the skin barrier and prevent excessive inflammation. Mutations in the gene encoding LEKTI can lead to skin disorders such as Netherton syndrome, which is characterized by red, scaly skin and hair abnormalities.

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      Severe Hypernatremia as Presentation of Netherton Syndrome

      research Severe Hypernatremia as Presentation of Netherton Syndrome

      November 2023 in “Global Medical Genetics”
      Netherton syndrome is a rare genetic disorder marked by congenital ichthyosis, immune dysregulation, and scalp anomalies. A 1-month-old male with severe hypernatremia (186 mg/dL) and failure to thrive was diagnosed with Netherton syndrome, confirmed by the presence of "invaginated trichuriasis." The condition results from a mutation in the SPINK5 gene, leading to a loss of LEKTI protein and severe skin barrier defects. Early life complications include hypernatremic dehydration, severe infections, and growth retardation.
      Cornification

      research Cornification

      September 2018
      Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.
      Inherited Ichthyosis: Syndromic Forms

      research Inherited Ichthyosis: Syndromic Forms

      47 citations, March 2016 in “Journal of dermatology”
      Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

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