Monilethrix

    August 2012 in “ The Journal of Pediatrics
    André Lencastre, Antonella Tosti
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    TLDR A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
    A 12-year-old girl presented with a 2-year history of progressive hair loss on the scalp and partial loss of eyebrows, leading to a diagnosis of monilethrix, an autosomal dominant disorder characterized by beaded hair shafts. Dermoscopy revealed the characteristic elliptical nodes and constrictions of monilethrix hair shafts, with broken hair shafts at internode levels. The condition, caused by mutations in hair keratins hHb6 and hHb1, results in dull, fragile hair that breaks easily. Severity varies, and in this case, the disease was mild and unnoticed until adolescence. The patient's parents were advised to avoid scalp hair trauma and informed that the condition might improve with age, although no effective treatment was available at the time of the report.
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