A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease

    Tjerk J Lagrand, Laurie McLaughlin, Alexander Lehn
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    TLDR A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
    The document presents a unique case of a 21-year-old male patient with Wilson's Disease (WD), a rare disorder caused by mutations in the ATP7B gene, who exhibited trichotillomania (compulsive hair-pulling) as one of the initial signs. The patient had a 3-month history of mixed movement disorders and psychiatric disturbances, including an irresistible urge to pull out his facial, armpit, and pubic hair. Laboratory tests showed abnormal levels of serum ceruloplasmin and copper, and genetic testing confirmed a novel homozygous variant in the ATP7B gene, confirming WD. The patient was treated with chelation therapy for copper reduction but remained highly dependent on family for daily activities. His neurological status and behavioral abnormalities were unchanged 4 months after discharge. This is the first reported case of trichotillomania as a presenting sign in a patient with neurological WD.
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