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Xeroderma pigmentosum

Last reviewed: 5 Oct 2024
Last updated: 07 Jun 2023

Summary

Definition

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
Full details

Risk factors

  • age <2 years
  • positive family history
  • parental consanguinity
  • Japanese ancestry
Full details

Diagnostic tests

1st tests to order

  • clinical diagnosis
Full details

Tests to consider

  • unscheduled DNA synthesis
  • genetic testing
  • comprehensive genomic testing
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Joseph Lam, MD

Associate Professor

Department of Pediatrics

University of British Columbia

Vancouver

Canada

Disclosures

JL declares that he has no competing interests.

Alexander Leung, MD

Professor of Pediatrics

The University of Calgary

Calgary

Alberta

Canada

Disclosures

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

Bethesda

MD

Disclosures

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 information

    Skin cancer (squamous cell)

    Basal cell carcinoma

    More Patient information
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