[Xeroderma Pigmentosum]

Brain Nerve. 2019 Apr;71(4):394-399. doi: 10.11477/mf.1416201283.
[Article in Japanese]

Abstract

Xeroderma pigmentosum is a DNA repair disorder characterized by the occurrence of pigmented freckles and skin cancers on sun-exposed areas. Additionally, more than 50% of patients present with progressive degenerative neurological symptoms. Eight clinical subtypes of this condition are known, and neurological symptoms can be seen in XP-A, B, D, F, G complementation groups.

MeSH terms

  • DNA Repair
  • Humans
  • Pigmentation Disorders / pathology
  • Skin Diseases / pathology
  • Skin Neoplasms / pathology*
  • Xeroderma Pigmentosum / classification
  • Xeroderma Pigmentosum / pathology*