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Xeroderma Pigmentosum (Kaposi Dermatosis)

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Neurocutaneous Disorders

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Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by hyperpigmentation and extreme skin sensitivity to ultraviolet (UV) light as a result of a defective nucleotide excision repair (NER) system. It frequently leads to various cutaneous carcinomas, particularly affecting the sun-exposed areas. The first skin cancer could appear before the age of 10 years. Ocular and neurological deficits soon follow. Avoiding exposure to the sun, wearing protective clothing and applying sunscreens are the mainstay of prevention, along with oral isotretinoin and topical 5-fluorouracil. Genetic counselling should be undertaken to avoid consanguine marriages.

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Author information

Authors and Affiliations

  1. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

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  1. Ramsis Benjamin
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Editors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  2. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

  3. Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

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Benjamin, R. (2022). Xeroderma Pigmentosum (Kaposi Dermatosis). In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_31

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  • DOI: https://doi.org/10.1007/978-3-030-87893-1_31

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-87892-4

  • Online ISBN: 978-3-030-87893-1

  • eBook Packages: MedicineMedicine (R0)

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