Hypotrichosis and Nail Dysplasia: A Novel Hidrotic Ectodermal Dysplasia

    Shannon Harrison, Rodney Sinclair
    TLDR A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
    The document reported a case of a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl, characterized by short, sparse scalp hair, absent eyebrows, short eyelashes, and nail dystrophy in all digits. Despite normal sweating, teeth, and development, the girl exhibited specific nail changes, including shortened nail plates and distal onycholysis. Scanning electron microscopy of the hair showed trichorrhexis nodosa, while scalp biopsies revealed hypoplastic hair follicles and a reduced number of hair follicles. Treatment with topical minoxidil 5% resulted in only minimal improvement and was discontinued after 12 months.
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