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.
Differentials
- Cerebro-oculo-facio-skeletal syndrome (COFS)
- Trichothiodystrophy
- Cockayne syndrome
More DifferentialsGuidelines
- Xeroderma pigmentosum clinical practice guidelines
- Recommendations for childhood cancer screening and surveillance in DNA repair disorders
More GuidelinesPatient information
Skin cancer (squamous cell)
Basal cell carcinoma
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