Uncombable hair in a case of Zellweger syndrome – A new association

This document reported a novel association between uncombable hair syndrome (UHS) and Zellweger syndrome (ZS), a rare peroxisomal biogenesis disorder caused by mutations in the PEX genes. The case involved a patient with ZS due to a homozygous mutation of PEX 12, who also exhibited UHS, characterized by dry, frizzy, and unmanageable hair. The diagnosis of UHS was confirmed using scanning electron microscopy, which showed a triangular cross-section of the hair. This was the first reported case linking UHS with ZS.