Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses

Abstract

Mucopolysaccharidoses (MPS) are a group of inherited, progressive, metabolic diseases, caused by the deficiency of one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). The disease is usually fatal, with the life span of most untreated MPS patients being between one and two decades. In this report, on the basis of scanning electron microscopy (SEM) studies, we demonstrate that, besides the many other symptoms of MPS, there are characteristic abnormalities in the hair morphology of patients suffering from some types of this disease (MPS I, MPS II, MPS IIIA, MPS IIIB), but not from other types (MPS IVA, MPS IVB, MPS VI), where the changes are minor, if any. Different GAGs accumulate in the tissues of patients suffering from the various MPS types, and analysis of the disease types in which severe hair abnormalities occur or not could suggest that the accumulation of heparan sulfate, rather than dermatan sulfate or keratan sufate, may be responsible for the major changes in hair morphology. Considerable abnormalities in hair morphology occur in patients suffering from MPS I, MPS II, MPS IIIA, and MPS IIIB, but not in patients suffering from MPS IVA, MPS IVB, and MPS VI; this feature might potentially be used as an additional test for the assessment of the efficacy of treatments for MPS patients (types I, II, IIIA, and IIIB).

Putative Biological Mechanisms of Efficiency of Substrate Reduction Therapies for Mucopolysaccharidoses

“…This treatment, in which no adverse effects were noted, resulted in a statistically significant improvement in all tested parameters (Piotrowska et al 2008). Particularly, urinary GAG levels were reduced, hair morphology (which may be a useful parameter in monitoring efficacy of treatment of patients suffering from various MPS types; Kloska et al 2005;Wegrzyn et al 2007;Malinowska et al 2008) improved, and patients got higher scores in the psychological test by which cognitive functions could be assessed (Piotrowska et al 2008). Nevertheless, one must note that the positive changes were not dramatic, occurred in only a fraction of patients, and the measured parameters did not reach values estimated for healthy children.…”

Genistein in Sanfilippo disease: A randomized controlled crossover trial

“…Evaluation of hair morphology was based on a previously published semiquantitative scale ranging from 0 (normal) to 5 (most abnormal). 25 Each hair was scored a minimum of 2 times, and when the scores differed more than 2 points, the hair was scored again.…”

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

“…They include hernias, cardiac valve abnormalities, recurrent ear, nose and throat (ENT) infections, joint contractures or stiffness, coarse facial features, corneal clouding and carpal tunnel syndrome 3, 21. Other frequently occurring symptoms, including hepatomegaly, hearing loss and changes in hair morphology 22, 23, may be revealed by a meticulous medical history and complete physical examination of all the organ systems that are potentially affected by the disease.…”