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Xeroderma pigmentosum

Last reviewed: 19 Aug 2025
Last updated: 07 Jan 2025

Summary

Definition

História e exame físico

Principais fatores diagnósticos

  • 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
Detalhes completos

Fatores de risco

  • age <2 years
  • positive family history
  • parental consanguinity
  • Japanese ancestry
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • clinical diagnosis
Detalhes completos

Investigações a serem consideradas

  • unscheduled DNA synthesis
  • genetic testing
  • comprehensive genomic testing
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

Joseph Lam, MD

Associate Professor

Department of Pediatrics

University of British Columbia

Vancouver

Canada

Declarações

JL declares that he has no competing interests.

Alexander Leung, MD

Professor of Pediatrics

The University of Calgary

Calgary

Alberta

Canada

Declarações

AL declares that he has no competing interests.

Revisores

Kenneth H. Kraemer, MD

Chief, DNA Repair Section

Laboratory of Cancer Biology and Genetics

Center for Cancer Research

National Cancer Institute

Bethesda

MD

Declarações

KHK declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Moriwaki S, Kanda F, Hayashi M, et al. Xeroderma pigmentosum clinical practice guidelines. J Dermatol. 2017 Oct;44(10):1087-96.Texto completo  Resumo

Leung AK, Barankin B, Lam JM, et al. Xeroderma pigmentosum: an updated review. Drugs Context. 2022;11:2022-2-5.Texto completo  Resumo

Walsh MF, Chang VY, Kohlmann WK, et al. Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clin Cancer Res. 2017 Jun 1;23(11):e23-31.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Xeroderma pigmentosum images
  • Diagnósticos diferenciais

    • Cerebro-oculo-facio-skeletal syndrome (COFS)
    • Trichothiodystrophy
    • Cockayne syndrome
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Xeroderma pigmentosum clinical practice guidelines
    • Recommendations for childhood cancer screening and surveillance in DNA repair disorders
    Mais Diretrizes
  • Folhetos informativos para os pacientes

    Skin cancer (squamous cell)

    Basal cell carcinoma

    More Patient information
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