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Clinical symptoms associated with trichothiodystrophy: a review of the literature with special emphasis on light sensitivity and the association with xeroderma pigmentosum (complementation group D)

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Book cover Trends in Human Hair Growth and Alopecia Research

Abstract

The clinical aspects, and the hair shaft morphology and biochemistry, of trichothiodystrophy are reviewed. A wide spectrum of clinical symptoms has been reported in association with trichothiodystrophy. In this review the authors classify the symptom complexes according to increasing severity, i.e. starting from the isolated hair defect up to the most complex association of defective brain function, growth retardation, ichthyosis and light sensitivity. The authors suggest the existence of an as yet unreported association of hair and nail defect. Recently, the following classification or checklist has been proposed:

Hence there is a stepwise increase in the severity of the clinical expression of the disease processes. Even though the presently reported classification of the trichothiodystrophy-associated symptoms offers a schematic way of approaching the trichothiodystrophy patient it has to be specified that it remains unknown if these defects have a common basic abnormality responsible for the hair defect and/or deviations in the other organs.

In recent years a subset of light-sensitive patients has been individualized, and evidence is accumulating that such cases provide a link with the xeroderma pigmentosum syndromes Finally, there seems to be a biochemical heterogeneity amongst cases with the typical clinical features of Tay’s syndrome (IBIDS) without or with light sensitivity (PIBIDS). Two such cases are reported in the next poster.

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Author information

Authors and Affiliations

  1. Department of Dermatology, Catholic University of Louvain, Brussels, Belgium

    D. Van Neste

  2. Department of Dermatology, University of Heidelberg, Mannheim, Federal Republic of Germany

    X. Miller & E. Bohnert

Authors
  1. D. Van Neste
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  2. X. Miller
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  3. E. Bohnert
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Editor information

Editors and Affiliations

  1. Occupational Dermatology Unit, Catholic University of Louvain, Bruxelles, Belgium

    D. Van Neste , J. M. Lachapelle  & J. L. Antoine ,  & 

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© 1989 Kluwer Academic Publishers

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Van Neste, D., Miller, X., Bohnert, E. (1989). Clinical symptoms associated with trichothiodystrophy: a review of the literature with special emphasis on light sensitivity and the association with xeroderma pigmentosum (complementation group D). In: Van Neste, D., Lachapelle, J.M., Antoine, J.L. (eds) Trends in Human Hair Growth and Alopecia Research. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-7873-0_19

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  • DOI: https://doi.org/10.1007/978-94-011-7873-0_19

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-011-7875-4

  • Online ISBN: 978-94-011-7873-0

  • eBook Packages: Springer Book Archive

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