Evaluation of Hair Structural Abnormalities in Children with Different Neurological Diseases

    December 2022 in “ The Turkish Journal of Pediatrics
    Süleyman Hilmi Sevinç, Sedat Işıkay
    TLDR Hair examination helps diagnose rare neurological diseases in children.
    The study evaluated hair structural abnormalities in 16 children with different neurological diseases using light microscopy. Diagnoses included giant axonal neuropathy (9 patients), Griscelli syndrome (3 patients), Menkes disease (2 patients), and autosomal recessive woolly hair disease (2 patients). Notable hair characteristics were curly and tangled hair in giant axonal neuropathy, silvery blond hair in Griscelli syndrome, sparse and coarse hair in Menkes disease, and hypotrichosis in woolly hair disease. Common microscopic findings included dystrophic hair, trichorrhexis nodosa, tricoptylosis, and pili torti. The study concluded that hair examination is a valuable diagnostic tool for identifying rare diseases with hair manifestations and should be included in physical and neurological exams.
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