Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089094 | PMC |
| http://dx.doi.org/10.2147/TACG.S155083 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Metastatic Squamous Cell Carcinoma Treated With Pembrolizumab in a Patient With Xeroderma Pigmentosum.
Pediatr Dermatol
January 2025
Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
A 5-year-old male with xeroderma pigmentosum from Honduras presented with a rapidly growing mass on the left post-auricular neck, associated with left-sided hearing loss. MRI revealed a large mass with invasion of the external auditory canal, temporal bone, and metastasis to lymph nodes. Biopsy confirmed moderately differentiated squamous cell carcinoma (SCC).
View Article and Find Full Text PDFThe Significance of the Response: Beyond the Mechanics of DNA Damage and Repair-Physiological, Genetic, and Systemic Aspects of Radiosensitivity in Higher Organisms.
Int J Mol Sci
December 2024
Institute of Biodiversity and Ecosystem Research, Bulgarian Academy of Sciences, 1113 Sofia, Bulgaria.
Classical radiation biology as we understand it clearly identifies genomic DNA as the primary target of ionizing radiation. The evidence appears rock-solid: ionizing radiation typically induces DSBs with a yield of ~30 per cell per Gy, and unrepaired DSBs are a very cytotoxic lesion. We know very well the kinetics of induction and repair of different types of DNA damage in different organisms and cell lines.
View Article and Find Full Text PDFTualang Honey Has a Protective Effect Against Photodamage and Skin Cancer: An In Vivo Study.
Nutrients
December 2024
Department of Dermatology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Background/objective: Ultraviolet (UV) B radiation leads to DNA damage by generating cyclobutane pyrimidine dimers (CPDs). UVB-induced CPDs can also result in immune suppression, which is a major risk factor for non-melanoma skin cancer (NMSC). UVB-induced CPDs are repaired by nucleotide repair mechanisms (NER) mediated by xeroderma pigmentosum complementation group A (XPA).
View Article and Find Full Text PDFBeyond Nucleotide Excision Repair: The Importance of XPF in Base Excision Repair and Its Impact on Cancer, Inflammation, and Aging.
Int J Mol Sci
December 2024
Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057, USA.
DNA repair involves various intricate pathways that work together to maintain genome integrity. XPF (ERCC4) is a structural endonuclease that forms a heterodimer with ERCC1 that is critical in both single-strand break repair (SSBR) and double-strand break repair (DSBR). Although the mechanistic function of ERCC1/XPF has been established in nucleotide excision repair (NER), its role in long-patch base excision repair (BER) has recently been discovered through the 5'-Gap pathway.
View Article and Find Full Text PDFUnveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Int J Mol Sci
December 2024
Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy.
This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the gene, which was predicted to be pathogenic. However, a subsequent peculiar audiometric finding prompted further investigation, revealing a homozygous deletion in the gene linked to neurosensorial hearing loss.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!