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Genodermatoses II

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Braun-Falco´s Dermatology

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Abstract

The present chapter deals with common monogenetic diseases, which are also associated with skin manifestations. These include diseases that are usually classified as phacomatoses, such as neurofibromatosis, tuberous sclerosis, or Von Hippel–Lindau syndrome, and diseases with chromosomal aberrations, for instance, Turner syndrome and Klinefelter syndrome. In addition, diseases that are characterized by defects in DNA repair or genetic instability are described. These include xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome, but also progeroid diseases such as Werner and Bloom syndrome or Hutchinson–Gilford and Rothmund–Thomson syndromes. A further chapter deals with diseases showing disturbances in tissues, which develop during embryogenesis from the ectoderm – skin, hair, nails, and sweat glands – the so-called ectodermal dysplasia syndromes.

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Author information

Authors and Affiliations

  1. Clinic and Policlinic for Dermatology, University Hospital Regensburg, Regensburg, Germany

    Mark Berneburg

  2. Clinic for Dermatology and Venerology, Kepler University, Linz, Austria

    Monika Ettinger

Authors
  1. Mark Berneburg
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  2. Monika Ettinger
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Corresponding author

Correspondence to Mark Berneburg .

Editor information

Editors and Affiliations

  1. Department of Dermatology, University of Munich, Munich, Germany

    Gerd Plewig

  2. Department of Dermatology, University of Munich, Munich, Germany

    Lars French

  3. Department of Dermatology, University of Munich, Munich, Germany

    Thomas Ruzicka

  4. Department of Dermatology, Venerology and Allergology, Frankfurt University Hospital, Frankfurt, Germany

    Roland Kaufmann

  5. Clinic for Dermatology and Allergology, University of Marburg, Marburg, Germany

    Michael Hertl

Section Editor information

  1. Department of Dermatology, University of Munich, Munich, Germany

    Lars French

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Berneburg, M., Ettinger, M. (2020). Genodermatoses II. In: Plewig, G., French, L., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco´s Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-58713-3_57-1

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  • DOI: https://doi.org/10.1007/978-3-662-58713-3_57-1

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