Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition

J Am Acad Dermatol. 2016 Nov;75(5):873-882. doi: 10.1016/j.jaad.2016.03.044.


Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. These conditions may also have other extracutaneous involvement affecting the neurologic system and growth and development. Rigorous photoprotection remains an important component of the management of these inherited DNA repair-deficiency photodermatoses.

Keywords: Cockayne syndrome; UV-sensitive syndrome; cerebro-oculo-facial-skeletal syndrome; nucleotide excision repair; photodermatoses; photosensitivity; trichothiodystrophy.

Publication types

  • Review

MeSH terms

  • Cockayne Syndrome / epidemiology
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / therapy
  • DNA Adducts
  • DNA Repair-Deficiency Disorders / epidemiology
  • DNA Repair-Deficiency Disorders / genetics*
  • Disease Management
  • Genetic Predisposition to Disease
  • Humans
  • Mutagenesis
  • Phenotype
  • Photosensitivity Disorders / genetics*
  • RNA Polymerase II / metabolism
  • Radiation Tolerance / genetics
  • Transcription, Genetic
  • Trichothiodystrophy Syndromes / epidemiology
  • Trichothiodystrophy Syndromes / genetics
  • Trichothiodystrophy Syndromes / therapy
  • Ultraviolet Rays / adverse effects
  • Xeroderma Pigmentosum / genetics


  • DNA Adducts
  • RNA Polymerase II

Supplementary concepts

  • Cerebrooculofacioskeletal Syndrome 1