Hypotrichosis and Nail Dysplasia: A Novel Hidrotic Ectodermal Dysplasia

    Shannon Harrison, Rodney Sinclair
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    Studysummary This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
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    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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