Xeroderma Pigmentosum
Open accessAbstract
Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age. In this short review, the clinical, pathological, genetic and molecular aspects of XP are reviewed in the current literature. XP encompasses a spectrum of disease that overlaps with other diseases of DNA repair systems. In addition to cutaneous complications, patients are susceptible to eye conditions, neurodegenerative processes, central nervous system tumors and other tumors as a result of UV radiation exposure and its byproducts. Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative measures to minimize UV radiation exposure and damage can improve the course of disease and prolong life. The disease has served as a model for photoaging and UV radiation-induced cancer and has led to a better understanding of cell processes that prevent development of these disease features in normal individuals.
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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 [149]
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Cited by
Sorted by citations
Sunlight damage to cellular DNA: focus on oxidatively generated lesions
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- Authors
- Black, J. O.
- Affiliations
- Children's Hospital Colorado (US)
- Corresponding author
- Black, Jennifer O.
- ORCID
- Black, Jennifer O.
- Venue
- Head and Neck Pathology
- Published
- 2016-03-14
- Volume
- 10
- Issue
- 2
- Pages
- 139-144
- ISSN
- 1936-055X (ISSN-L)
- 1936-0568
- PMC
- PMC4838978
- OpenAlex
- W3192617031
- Cited by
- 166
- References
- 29
- Citations by year
- 2026: 10 · 2025: 22 · 2024: 20 · 2023: 27 · 2022: 22 · 2021: 25 · 2020: 18 · 2019: 7 · 2018: 8 · 2017: 7
- FWCI
- 3.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Head and Neck Pathology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Children's Healthcare of Atlanta
- 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 damage, photosensitivity, skin cancer, poikiloderma, neurodegeneration, central nervous system tumors, visual conditions, photoaging, genetic basis, molecular pathogenesis
- MeSH terms
- Humans, Xeroderma Pigmentosum
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