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

    March 2007 in “ European journal of pediatrics ”
    Marcelina Malinowska, Joanna Jakóbkiewicz‐Banecka, Anna Kłoska, Anna Tylki‐Szymańska, Barbara Czartoryska, Ewa Piotrowska, Alicja Węgrzyn, Grzegorz Węgrzyn
    Studysummary This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
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    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.
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