Uncombable Hair in a Case of Zellweger Syndrome: A New Association

This document reported a rare association between Uncombable Hair Syndrome (UHS) and Zellweger Syndrome (ZS) in a 6-year-old girl with a homozygous mutation of the PEX 12 gene. The patient exhibited mild ZS symptoms, including liver abnormalities, and UHS characterized by dry, fragile, and unmanageable hair. Genetic testing confirmed the diagnosis, and treatment with topical minoxidil and oral biotin supplements led to improved hair growth and patient satisfaction. This case was significant as it was possibly the first reported instance of UHS associated with ZS, suggesting a potential link between impaired lipid metabolism in ZS and hair abnormalities in UHS.