Abnormalities in the Hair Morphology of Patients with Some but Not All Types of Mucopolysaccharidoses

The study demonstrated that patients with certain types of mucopolysaccharidoses (MPS I, MPS II, MPS IIIA, MPS IIIB) exhibited significant abnormalities in hair morphology, as observed through scanning electron microscopy (SEM). In contrast, patients with other types (MPS IVA, MPS IVB, MPS VI) showed minor or no changes in hair morphology. The findings suggested that the accumulation of heparan sulfate, rather than dermatan sulfate or keratan sulfate, might be responsible for these major hair abnormalities. This characteristic could potentially serve as an additional test for evaluating the efficacy of treatments for MPS types I, II, IIIA, and IIIB.