Hair as a diagnostic tool in dysmorphology

Silengo, Margherita; Valenzise, Mariella; Sorasio, Lorena; Ferrero, Giovanni Battista

doi:10.1034/j.1399-0004.2002.620403.x

Cited by 19 publications

(20 citation statements)

References 7 publications

(7 reference statements)

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“…In summary, our findings indicate that MPS types I, II, IIIA, and IIIB (but not MPS types IVA, IVB, and VI) can be considered as inherited metabolic diseases in which abnormalities in the hair occur, and that these abnormalities could provide a diagnostic tool, as in the case of some other genetic diseases [16,17]. Since we found previously, and confirmed in this report, that the morphology of hair changed over time and normalized during the enzyme replacement therapy of MPS I patients, one may suggest that the observation of changes in this parameter could be an additional method for assessing the efficacy of this and any other types of therapies tested or used in some types of MPS (types I, II, IIIA, and IIIB).…”

Section: Discussionmentioning

confidence: 89%

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

et al. 2007

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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).

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Section: Discussionmentioning

confidence: 89%

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

et al. 2007

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“…The changes are similar to those present in other metabolic disorders like Menkes/occipital horn syndrome, biotinidase deficiency and argininosuccinic aciduria. In those diseases, hair anomalies are associated with specific metabolic defects that produce in turn defective cross-linking of the keratin (Menkes/occipital horn syndrome), biotin deprivation (biotinidase deficiency) and accumulation of toxic metabolites (argininosuccinic aciduria) [4]. We have recently observed similar hair changes in three patients affected by congenital disorders of glycosylation [5].…”

Section: Discussionmentioning

confidence: 96%

Hair anomalies as a sign of mitochondrial disease

et al. 2003

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“…Body hair is often diminished or absent. Eyebrows and eyelashes may be lacking [Silengo et al, 2002]. Decreased tear production, cataracts, and strabismus may occur.…”

Section: Clinical Features Of Various Ectodermal Dysplasiasmentioning

confidence: 97%

Ectodermal dysplasias

Itin

Fistarol²

2004

American J of Med Genetics Pt C

160

147

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Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure "one-layer diseases." Mesodermal and, rarely, endodermal dysplasias coexist. Embryogenesis exhibits distinct tissue organizational fields and specific interactions among the germ layers that may lead to a wide range of ectodermal dysplasias when genes important for development are mutated or otherwise altered in expression. Of the approximately 200 different ectodermal dysplasias, about 30 have been studied at the molecular level with identification of the causative gene. Freire-Maia and Pinheiro used the clinical aspects for their classification, and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that, when applied strictly, several additional groups of diseases should be integrated within the term "ectodermal dysplasias," e.g. keratodermas with skin or hair alterations or the ichthyoses with associated features. Such consequent classification would lead to an endless list of diseases and would be useless for the practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of embryology. In this way, a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. Lamartine recently proposed a helpful classification according to the functions of the genes discovered in different types of ectodermal dysplasias. Accordingly, the present overview categorizes the various ectodermal dysplasias into four major functional subgroups: cell-cell communication and signaling, adhesion, transcription regulation, and development.

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Hair as a diagnostic tool in dysmorphology

Cited by 19 publications

References 7 publications

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

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

Hair anomalies as a sign of mitochondrial disease

Ectodermal dysplasias

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