Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Jul 18:2022:8549532.
doi: 10.1155/2022/8549532. eCollection 2022.

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review

Tito Brambullo  1 , Michele Rosario Colonna  2 , Vincenzo Vindigni  1 , Stefano Piaserico  3 , Giuseppe Masciopinto  1 , Mariarosaria Galeano  2 , Alfio Luca Costa  1 , Franco Bassetto  1
Affiliations

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review

Tito Brambullo et al. Biomed Res Int. .

Abstract

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induced damage repair that is characterized by photosensitivity and a propensity for developing, among many others, skin cancers at an early age. This systematic review focused on the correlation between the clinical, pathological, and genetic aspects of XP and skin cancer.

Methods: A systematic review was conducted through a literature search of online databases PubMed, Cochrane Library, SciELO, and Google Scholar. Search terms were "Xeroderma pigmentosum", "XP", "XPC", "Nucleotide excision repair", "NER", "POLH", "Dry pigmented skin", and "UV sensitive syndrome" meshed with the terms "Skin cancer", "Melanoma", and "NMSC".

Results: After 504 abstracts screening, 13 full-text articles were assessed for eligibility, and 3 of them were excluded. Ten articles were selected for qualitative assessment.

Conclusions: Patients with XP usually suffer shorter lives due to skin cancer and neurodegenerative disease. Deletion/alteration of a distinct gene allele can produce different types of cancer. The XPC and XP-E variants are more likely to have skin cancer than patients in other complement groups, and the most common cause of death for these patients is skin cancer (metastatic melanoma or invasive SCC). Still, aggressive preventative measures to minimize UV radiation exposure can retard the course of the disease and improve the quality of life.

PubMed Disclaimer

Conflict of interest statement

The authors declare that there is no conflict of interest regarding the publication of this article.

Figures

Figure 1
Figure 1
The nucleotide excision repair (NER) pathway. Step 1: DNA damage recognition through two different ways: global genome (GG-NER) or transcription-coupled (TC-NER). Step 2: DNA unwinding. Step 3: DNA damage excision. Step 4: missing strand synthesis and ligation.
Figure 2
Figure 2
PRISMA diagram. Summary of the records identified through database searching.
Figure 3
Figure 3
Clinical case of a 28-year-old male patient affected by xeroderma pigmentosum. Absence of the right auricle with bone anchor for cosmetic prosthesis, planning for sentinel lymph node biopsy for pT4 malignant melanoma of the right superior eyelid (a). Superior third of the face just before the second (right) exenteratio orbitae, nasal splint for preventing collapsing of nostril residuals (b). Superior lip retraction, planning of local skin flap for BCC of the right nasolabial fold, and note the surgical scars of previous surgeries at the cheek, jawline, and cervical levels (c).
Figure 4
Figure 4
MR scan C+ delayed of orbits. A solid neoplastic tissue of the medial cantus invading the right orbital space, malignant melanoma pT4b (yellow arrows), and axial (a) and sagittal (b) views.
See this image and copyright information in PMC

Comment in

  • Xeroderma pigmentosum: An experience from Zanzibar.
    Hassan HS, Said AK, Haji DI, Sabushimike D, Semango G, Mavura D. Hassan HS, et al. Int J Dermatol. 2023 Jun;62(6):e335-e337. doi: 10.1111/ijd.16607. Epub 2023 Feb 9. Int J Dermatol. 2023. PMID: 36759963 No abstract available.

References

    1. Okamura K., Toyoda M., Hata K., Nakabayashi K., Umezawa A. G. Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum. Genomics Data . 2015;6:4–6. doi: 10.1016/j.gdata.2015.07.008. - DOI - PMC - PubMed
    1. Ding D., Zhang Y., Yu H., et al. Genetic variation of XPA gene and risk of cancer: a systematic review and pooled analysis. International Journal of Cancer . 2012;131(2):488–496. doi: 10.1002/ijc.26391. - DOI - PubMed
    1. Robbins J. H. Xeroderma pigmentosum. Annals of Internal Medicine . 1974;80(2):221–248. doi: 10.7326/0003-4819-80-2-221. - DOI - PubMed
    1. Kleijer W. J., Laugel V., Berneburg M., et al. Incidence of DNA repair deficiency disorders in Western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Cockayne Syndrome and Trichothiodystrophy. DNA Repair (Amst) . 2008;7(5):744–750. doi: 10.1016/j.dnarep.2008.01.014. - DOI - PubMed
    1. Hirai Y., Kodama Y., Moriwaki S., et al. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutation Research . 2006;601(1-2):171–178. doi: 10.1016/j.mrfmmm.2006.06.010. - DOI - PubMed

Publication types