Christmas Article: Case of Uncombable Hair Syndrome Discovered After Publication of Article in Ugeskrift for Læger
December 2023
in “
University of Southern Denmark Research Portal (University of Southern Denmark)
”
TLDR Digital access to medical info can help identify rare conditions.
A 9-year-old boy was diagnosed with uncombable hair syndrome, a rare hair shaft anomaly, after his mother suspected the condition upon reading a medical paper. Molecular genetics confirmed the diagnosis. This case highlights how digital access to medical information can help patients and families identify rare conditions.