Diagnosis by Hair Sample: A Rare Case of Netherton Syndrome in a 2-Year-Old Girl

    Fernando Antelo, Shi‐Kaung Peng, Samuel W. French
    TLDR Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
    The document reported a case of a 15-month-old girl diagnosed with Netherton syndrome, characterized by dermatitis, eosinophilic esophagitis, and failure to thrive. Initially, she developed a sloughing eczematous rash that spread from the scalp to the body, and she experienced vomiting and diarrhea at 4 months, leading to growth issues. Laboratory tests showed selenium deficiency and increased IgE levels. A scalp biopsy revealed psoriasiform dermatitis, and hair analysis identified trichorrexis invaginata, confirming Netherton syndrome. The study highlighted the importance of considering Netherton syndrome in patients with atopic dermatitis symptoms, emphasizing hair examination for diagnosis.
    Discuss this study in the Community →

    Related Community Posts Join

    0 / 0 results
    — no results

    Similar Research

    5 / 275 results
      Index

      research Index

      September 2019
      The document is a detailed guide on skin conditions and treatments for dermatologists.
      Index

      research Index

      November 2019 in “Harper's Textbook of Pediatric Dermatology”
      The document is a detailed medical reference on skin and genetic disorders.
      Ichthyosis

      research Ichthyosis

      147 citations , January 2003 in “American journal of clinical dermatology”
      The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.