Trichothiodystrophy: A Case Report

    March 2003 in “ 中華皮膚科醫學雜誌
    Pei‐Lun Sun, Yang-Chih Lin, Hsin‐Yi Su, Shuan‐Pei Lin
    TLDR Trichothiodystrophy causes unusual hair and developmental issues.
    Trichothiodystrophy was described as a rare autosomal recessive hair disorder often linked with neuroectodermal abnormalities and photosensitivity. The condition was characterized by specific hair abnormalities, including trichoschisis and trichorrhexis nodosa, as well as absent or damaged hair cuticles and alternating light and dark bands under various microscopy techniques. A notable feature was the low sulfur content in the hair. The report detailed a patient exhibiting these hair changes along with developmental delay.
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