Article Text

Download PDFPDF
Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation
  1. Rubens Paulo A Salomão,
  2. José Luiz Pedroso,
  3. Orlando G P Barsottini
  1. Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Brazil
  1. Correspondence to Dr José Luiz Pedroso, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, 04021-001, Brazil; jlpedroso.neuro{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


Xeroderma pigmentosum is a group of rare autosomal recessive disorders characterised by skin sensitivity to ultraviolet light, a higher frequency of skin cancers, and abnormal skin pigmentation.1 Several neurological symptoms are described in xeroderma pigmentosum.2 We describe a young woman with xeroderma pigmentosum who presented with prominent neurological involvement and brain imaging abnormalities.

Case report

A 17-year-old Brazilian woman, born from consanguineous parents, reported skin lesions and photosensitivity with minimal sun exposure, since the age of 1 year. When she was 5 years old, she presented with progressive gait disturbances, frequent falls, hearing …

View Full Text


  • Contributors All authors provided an important contribution.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed by Aisling Carr, London, UK.

Other content recommended for you