Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report

    November 2011 in “ Turkish Journal of Dermatology
    Erhan Ayhan, Abdullah Kivrak, Sema Aytekin
    TLDR Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
    Biotinidase deficiency, an autosomal recessive disorder affecting biotin metabolism, was associated with dermatological symptoms such as alopecia, periorificial dermatitis, and seborrhoeic dermatitis. In a case study of a 6-year-old male patient exhibiting periorificial lesions, alopecia, and microscopic hair shaft defects, clinical signs improved significantly with biotin treatment.
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