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

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.

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

PRISMA diagram. Summary of the records identified through database searching.

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

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.