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Uncombable hair syndrome is a rare hair shaft anomaly presenting in childhood with blond, frizzy, and unruly hair. This case report presents a 9-year-old boy with remarkable hair where the mother, after reading a medical paper on hair shaft anomalies, suspected uncombable hair syndrome. She reached out to the author group, and the employment of molecular genetics later confirmed the diagnosis of uncombable hair syndrome. This case report serves as an example of how digital access enables the attention of patients and relatives to be directed towards rare conditions.

Published under Open Access CC-BY-NC-BD 4.0. https://creativecommons.org/licenses/by-nc-nd/4.0/.

PMID: 38084614