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
Fatores de risco
- age <2 years
- positive family history
- parental consanguinity
- Japanese ancestry
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- clinical diagnosis
Investigações a serem consideradas
- unscheduled DNA synthesis
- genetic testing
- comprehensive genomic testing
Algoritmo de tratamento
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
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.
Diagnósticos diferenciais
- Cerebro-oculo-facio-skeletal syndrome (COFS)
- Trichothiodystrophy
- Cockayne syndrome
Mais Diagnósticos diferenciaisDiretrizes
- Xeroderma pigmentosum clinical practice guidelines
- Recommendations for childhood cancer screening and surveillance in DNA repair disorders
Mais DiretrizesFolhetos informativos para os pacientes
Skin cancer (squamous cell)
Basal cell carcinoma
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