Xeroderma pigmentosum
Open accessAbstract
Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in Western Europe.The first features are either extreme sensitivity to sunlight, triggering severe sunburn, or, in patients who do not show this sun-sensitivity, abnormal lentiginosis (freckle-like pigmentation due to increased numbers of melanocytes) on sun-exposed areas. This is followed by areas of increased or decreased pigmentation, skin aging and multiple skin cancers, if the individuals are not protected from sunlight. A minority of patients show progressive neurological abnormalities. There are eight XP complementation groups, corresponding to eight genes, which, if defective, can result in XP. The products of these genes are involved in the repair of ultraviolet (UV)-induced damage in DNA. Seven of the gene products (XPA through G) are required to remove UV damage from the DNA. The eighth (XPV or DNA polymerase η) is required to replicate DNA containing unrepaired damage. There is wide variability in clinical features both between and within XP groups. Diagnosis is made clinically by the presence, from birth, of an acute and prolonged sunburn response at all exposed sites, unusually early lentiginosis in sun-exposed areas or onset of skin cancers at a young age. The clinical diagnosis is confirmed by cellular tests for defective DNA repair. These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigmentation changes, different repair defect) and other lentiginoses such as Peutz-Jeghers syndrome, Leopard syndrome and Carney complex (pigmentation not sun-associated), which are inherited in an autosomal dominant fashion. Antenatal diagnosis can be performed by measuring DNA repair or by mutation analysis in CVS cells or in amniocytes. Although there is no cure for XP, the skin effects can be minimised by rigorous protection from sunlight and early removal of pre-cancerous lesions. In the absence of neurological problems and with lifetime protection against sunlight, the prognosis is good. In patients with neurological problems, these are progressive, leading to disabilities and a shortened lifespan.
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Conditions with mutations in NER pathways include xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy (TTD), UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS).
“These include the conditions with mutations in NER pathways (presented in Table 3) such as xeroderma pigmentosum (XP) [149,150], Cockayne syndrome (CS) [151,152], trichothiodystrophy (TTD) [153,154,155,156], UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS) [157,158,159].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [150]
Most xeroderma pigmentosum complementation groups A-G have a high incidence of skin tumors and deficiencies in nucleotide excision repair.
“Another indirect evidence for the implication of photoinduced damage to DNA in carcinogenicity is provided by the high incidence of skin tumors in most of the complementation groups A-G of xeroderma pigmentosum patients (17,18) who suffer from deficiencies in nucleotide excision repair (19).”
From Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions<sup>†</sup> (2012) · cites this paper as [17]
Photolesions are repaired by NER, a multistep process involving XPA, ERCC1, ERCC3, XPC, ERCC2, DDB2, ERCC4, and ERCC5.
“Photolesions engage the nucleotide excision repair (NER) pathway, which corrects UV-induced DNA damage in a multistep process involving numerous repair factors including XPA, ERCC1, ERCC3 (XP-B), XPC, ERCC2 (XP-D), DDB2 (XP-E), ERCC4 (XP-F) and ERCC5 (XP-G)”
From RETRACTED: PKA-Mediated Phosphorylation of ATR Promotes Recruitment of XPA to UV-Induced DNA Damage (2014) · cites this paper as Lehmann et al., 2011
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- Authors
- Lehmann, A. R., McGibbon, D., & Stefanini, M.
- Affiliations
- University of Sussex (GB)
- St Thomas' Hospital (GB)
- Istituto di Genetica Molecolare (IT)
- Corresponding author
- Lehmann, Alan R
- ORCID
- Lehmann, Alan R
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2011
- Volume
- 6
- Issue
- 1
- Pages
- 70
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC3221642
- OpenAlex
- W4244842284
- Cited by
- 343
- References
- 17
- Citations by year
- 2026: 14 · 2025: 18 · 2024: 23 · 2023: 21 · 2022: 33 · 2021: 34 · 2020: 27 · 2019: 26 · 2018: 20 · 2017: 29 · 2016: 27 · 2015: 20 · 2014: 24 · 2013: 17 · 2012: 10
- FWCI
- 6.63
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Sussex Research Online (University of Sussex) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion)
- Funders
- Associazione Italiana per la Ricerca sul Cancro
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Dermatology › Skin Protection and Aging
- Keywords
- xeroderma pigmentosum, DNA repair deficiency, UV-induced DNA damage, sun sensitivity, skin cancer predisposition, lentiginosis, photodermatosis, Cockayne syndrome, prenatal diagnosis, neurological complications
- MeSH terms
- DNA Repair, Europe, Humans, Japan, Neoplasms, Nervous System Diseases, United States, Xeroderma Pigmentosum
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