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Xeroderma pigmentosum

Last reviewed: 4 Nov 2023
Last updated: 07 Jun 2023



History and exam

Key diagnostic factors

  • presence of risk factors
  • photosensitivity
  • photophobia
  • prominent conjunctival injection
  • excessive freckle-like skin pigmentation (lentigines)
  • skin xerosis
  • skin atrophy
  • skin wrinkling
  • skin telangiectasia
  • signs of skin cancer
  • conjunctivitis
  • corneal neovascularization
  • dry eye
  • keratitis/corneal scarring
  • ectropion
  • blepharitis
  • conjunctival melanosis
  • cataract
  • signs of malignancy over the lids, conjunctiva, or cornea
  • entropion
  • diminished or absent deep tendon stretch reflex
  • sensorineural deafness
  • cognitive impairment
  • ataxia
  • acquired microcephaly
  • other neurodegenerative manifestations
More key diagnostic factors

Risk factors

  • age <2 years
  • positive family history
  • parental consanguinity
  • Japanese ancestry
More risk factors

Diagnostic investigations

1st investigations to order

  • clinical diagnosis
More 1st investigations to order

Investigations to consider

  • unscheduled DNA synthesis
  • genetic testing
  • comprehensive genomic testing
More investigations to consider

Treatment algorithm


all patients



Joseph Lam, MD

Associate Professor

Department of Pediatrics

University of British Columbia




JL declares that he has no competing interests.

Alexander Leung, MD

Professor of Pediatrics

The University of Calgary





AL declares that he has no competing interests.

Peer reviewers

Kenneth H. Kraemer, MD

Chief, DNA Repair Section

Laboratory of Cancer Biology and Genetics

Center for Cancer Research

National Cancer Institute




KHK declares that he has no competing interests.

  • Xeroderma pigmentosum images
  • Differentials

    • Cerebro-oculo-facio-skeletal syndrome (COFS)
    • Trichothiodystrophy
    • Cockayne syndrome
    More Differentials
  • Guidelines

    • Xeroderma pigmentosum clinical practice guidelines
    • Recommendations for childhood cancer screening and surveillance in DNA repair disorders
    More Guidelines
  • Patient leaflets

    Skin cancer (squamous cell)

    Basal cell carcinoma

    More Patient leaflets
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