O xeroderma pigmentoso (XP) é uma genodermatose rara caracterizada por extrema sensibilidade às alterações induzidas pela radiação ultravioleta (UV) na pele e nos olhos, e múltiplos cânceres de pele. É subdividido em 8 grupos de complementação, de acordo com o gene afetado: XP clássico (XPA a XPG) e variante XP (XPV).
Introdução
O que você precisa saber de cara
Xeroderma pigmentosum, comumente conhecido como XP, é uma condição hereditária caracterizada por uma sensibilidade extrema à radiação ultravioleta (UVR), que está presente na luz solar e também pode ser encontrada em alguns tipos de iluminação artificial. Essa condição afeta principalmente os olhos e as áreas da pele expostas ao sol. Xeroderma pigmentosum está associado a um risco aumentado de cânceres induzidos por UVR. Pessoas com a condição frequentemente apresentam envelhecimento prematuro. Alguns indivíduos afetados também têm problemas envolvendo o sistema nervoso.
Os sinais de xeroderma pigmentosum geralmente aparecem na infância ou no início da infância. Cerca de metade das crianças afetadas desenvolve uma queimadura solar grave após passar apenas alguns minutos ao sol. A queimadura solar causa vermelhidão e formação de bolhas que podem durar semanas. No entanto, algumas crianças com xeroderma pigmentosum podem bronzeiar normalmente.
Até os 2 anos de idade, quase todas as crianças com xeroderma pigmentosum desenvolvem sardas na pele em áreas expostas ao sol (como o rosto, braços e lábios); esse tipo de sardas raramente ocorre em crianças pequenas sem o distúrbio. Em indivíduos afetados, a exposição à luz solar frequentemente causa pele seca (xeroderma) e alterações na coloração da pele (pigmentação). Essa combinação de características dá à condição seu nome.
Pessoas com xeroderma pigmentosum têm 10.000 vezes mais probabilidade de desenvolver câncer de pele não melanoma e até 2.000 vezes mais probabilidade de desenvolver melanoma em comparação com indivíduos sem essa condição. Os tipos de câncer de pele que podem se desenvolver incluem carcinoma basocelular, carcinoma de células escamosas e melanoma. Mais comumente, o primeiro câncer de pele aparece em indivíduos afetados antes dos 10 anos de idade.
Sem proteção contra o sol e outras fontes de UVR, a maioria das pessoas com xeroderma pigmentosum desenvolve múltiplos cânceres de pele ao longo da vida. Esses cânceres ocorrem com maior frequência nas partes do corpo expostas ao sol, incluindo o rosto, os lábios, as pálpebras, a superfície dos olhos, o couro cabeludo e a ponta da língua. Estudos sugerem que pessoas com xeroderma pigmentosum também podem ter risco aumentado de alguns cânceres internos, incluindo tumores cerebrais, câncer de tireoide e cânceres sanguíneos. Além disso, indivíduos afetados que fumam cigarros têm risco significativamente aumentado de câncer de pulmão.
Os olhos de pessoas com xeroderma pigmentosum podem ser dolorosamente sensíveis à UVR (fotofobia). Se os olhos não forem protegidos da UVR, podem ficar avermelhados e irritados, e a camada frontal transparente dos olhos (a córnea) pode tornar‑se turva. Em algumas pessoas, os cílios caem e as pálpebras podem ser finas e virar anormalmente para dentro ou para fora. Além do risco aumentado de câncer na superfície do olho, xeroderma pigmentosum está associado a crescimentos não cancerosos no olho. Muitas dessas anomalias oculares podem prejudicar a visão.
Cerca de 30 por cento das pessoas com xeroderma pigmentosum desenvolvem anomalias neurológicas progressivas além dos problemas de pele e olhos. Essas anomalias podem incluir perda auditiva, coordenação deficiente, dificuldade para caminhar, problemas de movimento, perda de função intelectual, dificuldade para engolir e falar, e convulsões. Quando esses problemas neurológicos ocorrem, tendem a piorar com o tempo.
Indivíduos com xeroderma pigmentosum podem experimentar menopausa precoce.
Pesquisadores identificaram ao menos oito formas genéticas de xeroderma pigmentosum: grupo de complementação A (XP‑A) até o grupo de complementação G (XP‑G), além de um tipo variante (XP‑V). Os tipos são diferenciados pela causa genética. Todos os tipos aumentam o risco de câncer de pele, embora alguns sejam mais propensos que outros a estar associados a anomalias neurológicas.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoO xeroderma pigmentoso (XP) é uma genodermatose rara caracterizada por extrema sensibilidade às alterações induzidas pela radiação ultravioleta (UV) na pele e nos olhos, e múltiplos cânceres de pele. É subdividido em 8 grupos de complementação, de acordo com o gene afetado: XP clássico (XPA a XPG) e variante XP (XPV).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 49 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 111 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
8 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Xeroderma pigmentosum complementation group B
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Xeroderma pigmentosum variant type
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.
Xeroderma pigmentosum complementation group E
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features.
Xeroderma pigmentosum complementation group C
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities.
Xeroderma pigmentosum complementation group G
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Xeroderma pigmentosum complementation group A
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders.
Xeroderma pigmentosum complementation group F
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
Xeroderma pigmentosum complementation group D
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Variantes genéticas (ClinVar)
283 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2.231 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
39 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.046
DNA repair-associated nucleases induce double-strand breaks following sequential exposure to UVA1 and UVB.
Solar UV comprises UVA and UVB; each exerts distinct biological effects, while their combined impact is not yet fully understood. We previously reported that human keratinocytes exposed to UVA1 followed by UVB irradiation exhibited severe cell death accompanied by DNA double-strand break (DSB) formation. In this study, we confirmed the DSB formation following sequential exposure to UVA1 and UVB and investigated the underlying mechanisms. The occurrence of DSBs was validated by biased sinusoidal field gel electrophoresis and the detection of phosphorylated histone H2AX and RPA. Notably, DSB induction was absent in xeroderma pigmentosum (XP) mutant cell lines, suggesting that nucleotide excision repair (NER) of UVB-induced pyrimidine dimers serves as a trigger for DSB formation. RPA, which binds to single-stranded DNA (ssDNA) gaps, and the replication factor PCNA rapidly accumulated at UV-damaged sites and persisted for an extended period in cells pre-irradiated with UVA1, indicating that NER-mediated ssDNA gaps were stabilized by UVA1 exposure. Furthermore, DSB formation was markedly suppressed by knockdown of the nucleases, EXO1 and MRE11. Inhibition of MRE11 endonuclease activity with PFM01 suppressed DSB formation after sequential exposure to UVA1 and UVB, whereas inhibition of its exonuclease activity with Mirin had no significant effect. These findings suggest that ssDNA gaps stabilized by UVA1 pre-irradiation are extended by EXO1, while MRE11 introduces a nick, ultimately leading to DSB formation.
Pre-incision structures reveal principles of DNA nucleotide excision repair.
Nucleotide excision repair (NER) removes bulky adducts from genomic DNA and prevents the ultraviolet light-sensitivity disease xeroderma pigmentosum, cancer and premature ageing1. After initial lesion recognition by XPC in global genome repair or by stalled RNA polymerases in transcription-coupled repair, a lesion and surrounding DNA duplex are unwound by TFIIH, which includes the ATPases XPB and XPD, and additional NER factors XPA, XPF, XPG and RPA, to form a DNA bubble2 comprising around 27 nucleotides. The double strand-single strand (ds-ss) junction-specific endonucleases XPF and XPG cleave DNA on the 5' and 3' sides of the lesion, respectively. Here we report the functional steps and atomic structures of the ATPase-driven and lesion-dependent DNA bubble formation and arrangement of the complete NER factors for dual incision. The unwinding of nearly 30 base pairs of DNA depends mainly on the double strand DNA translocase XPB and the duplex dividers XPA and XPF. XPD binds the lesion strand with XPF at the 5' ds-ss junction. XPF cuts the lesion strand only after XPG binds the 3' ds-ss junction. The ERCC1 subunit of XPF facilitates DNA strand separation and recruitment of RPA to the non-lesion strand. These findings provide insights on the causes of human diseases and potential targets for enhancing chemotherapeutic efficacy.
Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in-frame deletions and a less severe phenotype.
Association of XPC rs2228001, ESR2 rs1256030, and rs4986938 Gene Polymorphisms With Breast Cancer Risk in Bangladeshi Women: A Case-Control Study.
Breast cancer is one of the most destructive diseases among females worldwide, especially in developing countries. XPC and ESR2 genes have been identified in multiple malignancies. Therefore, we aimed to determine the association of XPC (rs2228001) and ESR2 (rs1256030/rs4986938) polymorphisms with breast cancer susceptibility in the Bangladeshi population. This case-control study was carried out on 220 breast cancer patients and 208 healthy volunteers. Genotyping was performed using the polymerase chain reaction (PCR)-restriction fragment length polymorphism (PCR-RFLP) technique. Analyses were conducted using the statistical software application SPSS (version 25.0). Logistic regression was employed to assess the genetic association, employing the odds ratio (OR) and 95% confidence intervals (CIs). The XPC rs2228001 polymorphism demonstrated a significant association with breast cancer risk, with the CC genotype (OR = 3.27, P = .009), dominant model (OR = 1.67, P = .011), recessive model (OR = 2.87, P = .019), and allelic model (OR = 1.69, P = .002). The ESR2 rs1256030 variant exhibited a significantly elevated risk of breast cancer across all genetic models (P < .05). Whereas, the ESR2 rs4986938 polymorphism showed a significant correlation with breast cancer susceptibility in the TT genotype under the additive model 2 (OR = 3.83, P = .011) and the recessive model (OR = 3.73, P = .021). Our study concluded that the XPC rs2228001, ESR2 rs1256030, and ESR2 rs4986938 gene polymorphisms might be associated with breast cancer risk in the Bangladeshi women. Larger studies across diverse populations are recommended to validate these findings.
XAB2: a link between RNA metabolism, DNA damage repair, and human health.
Cells have evolved multiple mechanisms to preserve genome integrity, collectively known as DNA damage response (DDR). Rather than acting separately, the DDR often interacts with transcription and mRNA splicing; however, the underlying molecular mechanisms of this cross-talk are still poorly understood. Consistent with this, components of the splicing machinery are increasingly being recognized as factors with a direct role in sensing, signaling, and repairing DNA damage. Xeroderma pigmentosum group A-binding protein 2 (XAB2), which plays a well-characterized role in mRNA splicing, has also been implicated in the repair of transcription-blocking DNA lesions, transcription elongation, mRNA export, RNA surveillance, and R-loop processing. XAB2 is critical for a wide variety of biological processes, including the mitotic cell cycle, cell differentiation, stress responses, tissue homeostasis, and cellular senescence. However, the mechanism by which XAB2 functions outside of mRNA splicing remains unclear. In this review, we summarize the current knowledge of the biological processes affected by XAB2 in different cellular contexts. Furthermore, we discuss the link between XAB2 and human health, with a particular focus on cancer. This review aims to emphasize the importance of XAB2 and raise awareness of its physiological contributions.
Publicações recentes
Clinicopathological and molecular characterization of tumor-associated macrophages in sporadic and Xeroderma Pigmentosum-related cutaneous melanoma.
Successful Interstitial HDR Brachytherapy for Nasal Skin SCC in Xeroderma Pigmentosum: An Eight-Year Follow-Up Case Report.
High cancer-associated mutational burden in normal blood of xeroderma pigmentosum group C, but not groups A, D, or F.
Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model.
Rare internal malignancies in xeroderma pigmentosum: A report of two cases from Tunisia and analysis of driver mutations.
📚 EuropePMC2.350 artigos no totalmostrando 197
From Xeroderma Pigmentosum to malignant melanoma: case of an 8-year-old boy.
Oxford medical case reportsAssociation of XPC rs2228001, ESR2 rs1256030, and rs4986938 Gene Polymorphisms With Breast Cancer Risk in Bangladeshi Women: A Case-Control Study.
Clinical breast cancerTreatment With Sonidegib for Multiple Basal Cell Carcinomas in a Patient With Xeroderma Pigmentosum.
Actas dermo-sifiliograficasXAB2: a link between RNA metabolism, DNA damage repair, and human health.
TranscriptionFeasibility of Allogeneic Stem Cell Transplantation in Xeroderma Pigmentosum Patients With Hematologic Malignancies, a Report From the SFGM-TC (Société Francophone de Greffe de Moelle et de Thérapie Cellulaire).
American journal of hematologyLip and oral involvement in 116 patients with xeroderma pigmentosum in the UK.
Clinical and experimental dermatologyDNA repair-associated nucleases induce double-strand breaks following sequential exposure to UVA1 and UVB.
Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for PhotobiologyCutaneous Clearance in a Patient With Xeroderma Pigmentosum Under Treatment With Nivolumab.
Actas dermo-sifiliograficasPre-incision structures reveal principles of DNA nucleotide excision repair.
Nature[Clinical characterization and genetic analysis of a patient with Xeroderma pigmentosum in conjunct with basal cell carcinoma and melanoma due to variants of XPC gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe interaction of XPG with TFIIH through p62 and XPD is required for the completion of nucleotide excision repair.
Nucleic acids researchArabidopsis XPD functions upstream of CDKA;1 to regulate stomatal development.
The New phytologistXeroderma pigmentosum with multiple skin carcinoma and a homogenous XPC mutation: A case report from China and literature review.
The Journal of international medical researchType I interferon signaling defines a novel disease signature in xeroderma pigmentosum C human keratinocytes.
Scientific reportsSuccessful adjuvant nivolumab therapy in a toddler with xeroderma pigmentosum and stage III melanoma.
European journal of dermatology : EJDPembrolizumab Therapy Leads to Lentigines Resolution and Tumour Control in a Xeroderma Pigmentosum patient with Advanced Cutaneous Squamous Cell Carcinoma.
Clinical and experimental dermatologyCockayne syndrome mutation in XPG activate the integrated stress response.
Human geneticsThe association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review.
Personalized medicineAntibody Deficiency in Xeroderma Pigmentosum.
Journal of clinical immunologyTranscriptomic differences in immune- and stress-related pathways associated with artificial rearing in the endangered hog deer (Axis porcinus).
BMC genomicsGenotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.
The British journal of dermatologyUnusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.
Clinical geneticsOral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.
Oral surgery, oral medicine, oral pathology and oral radiologyVitiligo in Xeroderma Pigmentosum: A Protective Phenomenon Against Skin Cancer?
Photodermatology, photoimmunology & photomedicineLiposomal Delivery of Pyronaridine as a Repurposed Inhibitor of ERCC1/XPF for the Sensitization of Colorectal Cancer Cells to Platinum Chemotherapeutics.
Molecular pharmaceuticsKaryotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.
CellsMolecular basis of XPF-ERCC1 targeting to SLX4-dependent DNA repair pathways.
Nature communicationsAltered expression of nucleotide excision repair genes ERCC2 and ERCC5 in prostate cancer tissues.
Cancer geneticsInhibition of scheggia/SLC25A1 citrate transporter alleviates XPD deficits.
Scientific reportsCombining spironolactone to antiretroviral therapy accelerates HIV decay in humanized mice.
Emerging microbes & infectionsTranslocation mechanism of xeroderma pigmentosum group D protein on single-stranded DNA and genetic disease etiology.
Nature communicationsA retrospective Case-Control study investigating the association of XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181), and TP53 Arg72Pro (rs1042522) with papillary thyroid carcinoma susceptibility in the Bangladeshi population.
Molecular biology reportsEfficacy of Minnelide in a Next-Generation Dual-Recombinase Regulated Genetically Engineered Mouse Model of CIC::DUX4 Sarcoma.
bioRxiv : the preprint server for biologyCRISPR/Cas9-mediated editing of XPA in induced pluripotent stem cells: A model for investigating Xeroderma Pigmentosum and NER dysfunction.
Stem cell researchExpanding the landscape of nucleotide excision repair disorders: from discovery to therapy.
The Journal of clinical investigationOcular Manifestations and Genetic Spectrum of Xeroderma Pigmentosum: Insights From an Indian Cohort in a Global Context.
CorneaClinical Spectrum of Xeroderma Pigmentosum: An Observational Study.
CureusXeroderma pigmentosum associated with recurrent squamous and basal cell carcinoma: a case report from Nepal.
Annals of medicine and surgery (2012)Hemophagocytic Lymphohistiocytosis due to Brucellosis in a Xeroderma Pigmentosum Pediatric Patient: A Case Report and Review of the Literature.
Case reports in hematologyClinical outcomes of 3D-total body photography and digital dermoscopy for surveillance of high-risk melanoma patients. A prospective longitudinal observational study.
European journal of cancer (Oxford, England : 1990)Contribution of Xeroderma Pigmentosum Complementation Group C Genotypes to Colorectal Cancer in Taiwanese.
Anticancer researchExploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.
Parkinsonism & related disordersBreak-induced replication is activated to repair R-loop-associated double-strand breaks in SETX-deficient cells.
Cell reportsJuvenile Granulosa Cell Tumor in an Adolescent With Xeroderma Pigmentosum: A Rare Case and Implications for Surveillance.
CureusMechanistic insights into alcohol-induced DNA crosslink repair by Slx4-Xpf-Ercc1 nuclease complex in the Fanconi anaemia pathway.
Communications biologyA Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.
The Journal of investigative dermatologyA Novel Technique in One-Staged Reconstruction of Large Lower Eyelid Defects: Orbicularis Oculi Myoperiosteal Flap.
Ophthalmic plastic and reconstructive surgeryReverse Isotopic Response: A Novel Phenomenon in Xeroderma Pigmentosum.
Indian dermatology online journalTFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.
The Journal of clinical investigationXP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
The Journal of clinical investigationThe aflatoxin B1-induced formamidopyrimidine adduct is repaired by transcription-coupled nucleotide excision repair in human cells.
NAR cancerAnti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.
NAR cancerFerritin-Conjugated PROTAC Strategy for ERCC1/XPF Degradation and Platinum Sensitization in Resistant Tumors.
Journal of medicinal chemistryEmbryonal Rhabdomyosarcoma of the Uterine Cervix in a Patient With Xeroderma Pigmentosum: An Exceptional Association.
CureusQuantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.
The Journal of clinical investigationXeroderma pigmentosum: a 12-year experience in digital dermoscopy and reflectance confocal microscopy follow-up at a Cancer Center in Brazil.
Anais brasileiros de dermatologiaUncovering the Role of DNA Repair Impairment in UVA-Induced Mutagenesis in Human Xeroderma Pigmentosum Variant Cells.
Molecular carcinogenesisUniquely high spontaneous mutational load in blood cells of XP-C patients.
bioRxiv : the preprint server for biologyInhibition of nucleotide excision repair proteins associated with cancer chemotherapy.
Biochimica et biophysica acta. Reviews on cancer[Characterization of periocular basal cell carcinoma in patients ≤ 50 years from 1996-2024 : A retrospective analysis at a university eye clinic].
Die OphthalmologieTrichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing.
Nucleic acids researchGenome-wide mapping of formaldehyde-induced DNA-protein crosslinks reveals unique patterns of formation and transcription-coupled removal in mammalian cells.
Nucleic acids researchPrediction of response to neoadjuvant chemotherapy in patients with muscle-invasive urothelial bladder cancer: role of immune-related gene expression.
Cancer immunology, immunotherapy : CIIA new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.
European journal of human genetics : EJHGOphthalmic and Cutaneous Manifestation of Xeroderma Pigmentosum in a 21-Year-Old Man: A Case Report.
CureusSkin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.
International journal of molecular sciencesThe Price of Exposure: Xeroderma Pigmentosum and Skin Cancer.
CureusThe clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?
Pediatric discoveryImaging-Based High-Content Screening with Clickable Probes Identifies XPB Inhibitors.
Angewandte Chemie (International ed. in English)Newborn genome screening (the Generation Study): the advent of presymptomatic diagnosis for genodermatoses.
The British journal of dermatologyOroxylin A inhibits UVB-induced non-melanoma skin cancer by regulating XPA degradation.
Chinese journal of natural medicinesA case of rapidly growing conjunctival squamous cell carcinoma in a 3-year-old child with xeroderma pigmentosum: a case report.
Journal of medical case reportsEPHX1 and ERCC2 polymorphisms are associated with cisplatin-induced nephrotoxicity and prognosis in Thai cancer patients.
PloS onePediatric Ocular Surface Squamous Neoplasia in the Absence of Known Risk Factors and Systemic Conditions: A Case Series.
Ocular oncology and pathologyAn unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature.
Clinical parkinsonism & related disordersRole of alphaII-spectrin and XPF interaction in Hepatocellular carcinoma.
GeneEbselen protects XPC deficient cells from H2O2 induced oxidative stress through a potentially mitohormetic mechanism.
Free radical biology & medicineCHIR99021 Enhances the Proliferation of Mouse Female Germline Stem Cells Via Modulating ERCC2.
Reproductive sciences (Thousand Oaks, Calif.)Biological Models of Oxidative Purine DNA Damage in Neurodegenerative Disorders.
Antioxidants (Basel, Switzerland)Xeroderma Pigmentosam: Case Report of Siblings.
International journal of clinical pediatric dentistryComprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report.
Archives of clinical neuropsychology : the official journal of the National Academy of NeuropsychologistsEffective Sequential and Rotational Therapy in a Patient With Xeroderma Pigmentosum.
Dermatology practical & conceptualCigarette smoke and decreased DNA repair by Xeroderma Pigmentosum Group C use a double hit mechanism for epithelial cell lung carcinogenesis.
OncotargetDistribution of genetic polymorphisms of nucleotide excision repair genes and risk of gastrointestinal cancer: Findings from a case-control study.
Indian journal of cancerXPD Regulates MIAT/miR-29a-3p/COL4A1 Axis to Impede Hepatocellular Carcinoma Development.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyEffect of Repair Gene Polymorphism on the Risk of Malignant Neoplasm Development after Chronic Radiation Exposure.
Doklady. Biochemistry and biophysicsXeroderma pigmentosa associated with spindle cell carcinoma of lung: a case report.
Annals of medicine and surgery (2012)Treatment of corneoscleral mixed hemangioma by intrastromal lenticule transplantation in a case of xeroderma pigmentosum: a case report.
BMC ophthalmologyFour germline POLH variants, including two found in skin tumors, impair DNA polymerase η function and cellular tolerance to UV radiation and cisplatin.
Chemico-biological interactionsAmy and Friends: improving the lives of individuals affected by DNA repair disorders.
FEBS lettersA Rare Case of Xeroderma Pigmentosum: Nivolumab Treatment for Three Cutaneous Malignancies with Clinical and Metabolic Imaging Correlation.
Diagnostics (Basel, Switzerland)CARM1/PRMT4 facilitates XPF-ERCC1 heterodimer assembly and maintains nucleotide excision repair activity.
Nucleic acids researchXeroderma pigmentosum type C with prominent cutaneous manifestations and subclinical neuroimaging abnormalities.
BMJ case reportsIdentification of a novel pathogenic XPC:c.2420 + 1 G>C variant in a patient with xeroderma pigmentosum.
DNA repairThirteen-year-old Child Develops Squamous Cell Carcinoma Without Underlying Causes.
Plastic and reconstructive surgery. Global openThe molecular landscape of hereditary ataxia: a single-center study.
Human geneticsExploring potential treatment opportunities in a head and neck tumor patient with AdCC: A novel germline ERCC2 mutation case report.
MedicineTranscription blocking properties and transcription-coupled repair of N2-alkylguanine adducts as a model for aldehyde-induced DNA damage.
The Journal of biological chemistryCircular RNA circ_0004470 accelerates the occurrence of lung cancer by promoting DNA damage and cell cycle arrest.
The Journal of biological chemistryBasal Cell Carcinoma in an Adolescent Male Child with Xeroderma Pigmentosum.
Indian dermatology online journalSLX4 and XPF are involved in cell migration and EMT in a cell-specific manner.
Biochemical pharmacologyGermline variants in CDKN2A wild-type melanoma prone families.
Molecular oncologyAssociation of XRCC1 (rs1799782) and XPD (rs13181) gene polymorphisms with renal failure risk in a sample of Iraqi population: a case-control study.
Molecular biology reportsImmune checkpoint inhibitors for children with xeroderma pigmentosum and advanced cutaneous squamous cell carcinoma: A case presentation and brief review.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGMolecular insights into genodermatoses: Genetic findings from 43 patients.
Archives of dermatological researchNucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.
GenesClinico-tomographic-pathological correlation in nodulo-ulcerative ocular surface squamous neoplasia: a study of 16 cases.
International ophthalmologyTrichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.
Molecular genetics & genomic medicineAssociation of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects.
BMC oral healthMelatonin mitigates UV-induced tumorigenesis and suppresses hearing function deterioration in Xpa-deficient mice.
Journal of dermatological scienceNano-delivery of a novel inhibitor of ERCC1-XPF for targeted sensitization of colorectal cancer to platinum-based chemotherapeutics.
Drug delivery and translational researchMetastatic Squamous Cell Carcinoma Treated With Pembrolizumab in a Patient With Xeroderma Pigmentosum.
Pediatric dermatologyMutagenicity, DNA Repair Gene Polymorphism, and Differentially Expressed Plasma Protein Fractions Among Textile Dyeing Workers.
Journal of occupational and environmental medicineThe Significance of the Response: Beyond the Mechanics of DNA Damage and Repair-Physiological, Genetic, and Systemic Aspects of Radiosensitivity in Higher Organisms.
International journal of molecular sciencesTualang Honey Has a Protective Effect Against Photodamage and Skin Cancer: An In Vivo Study.
NutrientsBeyond Nucleotide Excision Repair: The Importance of XPF in Base Excision Repair and Its Impact on Cancer, Inflammation, and Aging.
International journal of molecular sciencesUnveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
International journal of molecular sciencesGenetic signatures of ERCC1 and ERCC2 expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy.
Oncology researchEvaluation of Photoaging and Sun Protection Behavior in Children With Xeroderma Pigmentosum, Group C: A Prospective Analysis.
Pediatric dermatologyGeneration and characterization of CRISPR-Cas9-mediated XPC gene knockout in human skin cells.
Scientific reportsTranscription-coupled repair - mechanisms of action, regulation, and associated human disorders.
FEBS lettersThe association of rs25487 of the XRCC1 gene and rs13181 of the ERCC2 gene polymorphisms with the ovarian cancer risk.
Biomolecules & biomedicineA Case of Xeroderma Pigmentosum Variant Type With a Novel Mutation Diagnosed in Early Childhood.
Photodermatology, photoimmunology & photomedicineIdentification of novel variants of XPA and POLH/XPV genes in xeroderma pigmentosum patients in Vietnam.
Personalized medicineBeyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.
Cerebellum (London, England)Co-infection of HSV-1 amplicons containing the XPC gene and a human artificial chromosome vector into primary XPC deficient fibroblast cells.
Biochemistry and biophysics reportsDifferent germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.
PLoS geneticsSynthetic rescue of Xeroderma Pigmentosum C phenotype via PIK3C3 downregulation.
Cell death & diseaseThe Role of Dermoscopy in Diagnosing Xeroderma Pigmentosum: A Practical Tool in Low-resource Settings.
Acta dermato-venereologicaContribution of ERCC2 rs13181 (Lys751Gln) and rs1799793 (Asp312Asn) polymorphisms to the risk of bladder cancer in Bangladesh.
Cancer geneticsFrequent Occurrence of High-Risk Basal Cell Carcinoma in Xeroderma Pigmentosum: A Histopathological Insight From an Indian Cohort.
Journal of cutaneous pathologyThe synergy between alkylating agents and ERCC1-XPF inhibitors is p53 dependent.
Fundamental & clinical pharmacologyDNA Damage Response Alterations Predict for Neoadjuvant Chemotherapy Sensitivity in Muscle-Invasive Bladder Cancer: A Correlative Analysis of the SWOG S1314 Trial.
JCO precision oncologyCurcumin derivative C210 induces Epstein-Barr virus lytic cycle and inhibits virion production by disrupting Hsp90 function.
Scientific reportsXeroderma pigmentosum protein XPD controls caspase-mediated stress responses.
Nature communicationsCase report: Neoadjuvant-intent pembrolizumab resulted in complete response in a xeroderma pigmentosum patient with locally advanced resectable cutaneous squamous cell carcinoma of the nose.
Frontiers in medicineCanonical and Non-Canonical Roles of Human DNA Polymerase η.
GenesCutaneous Squamous Cell Carcinoma and Multiple Basal Cell Carcinomas in Xeroderma Pigmentosum-Variant Type Treated with Imiquimod 5% Cream and Radiotherapy: A Case Report.
Acta medica PhilippinaUnderstanding and managing locally advanced basal cell carcinoma: insights into pathogenesis, therapeutic strategies, and the role of hedgehog pathway inhibitors.
Italian journal of dermatology and venereologyGenetic variations in NER pathway gene polymorphisms and Wilms tumor risk: A six-center case-control study in East China.
IUBMB lifeXeroderma Pigmentosum Type C Primary Skin Fibroblasts Overexpress HGF and Promote Squamous Cell Carcinoma Invasion in the Absence of Genotoxic Stress.
CancersA personalized and systematically designed adherence intervention improves photoprotection in adults with xeroderma pigmentosum (XP): results of the XPAND randomized controlled trial.
The British journal of dermatologyEpidemiologic trends in cutaneous squamous cell carcinoma from 2011 to 2021 at All Africa Leprosy, Tuberculosis, and Rehabilitation Training Center (ALERT) in Addis Ababa, Ethiopia.
JAAD internationalThe Distinct Roles of NEIL1 and XPA in Limiting Aflatoxin B1-Induced Mutagenesis in Mice.
Molecular cancer research : MCRMolecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.
Nature communicationsGeneration of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A.
Stem cell researchGermline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Pigment cell & melanoma researchA Case of Severe Facial Swelling Mimicking Facial Nerve Paralysis after Cryotherapy to the Basal Cell Carcinoma in a Xeroderma Pigmentosum Patient.
Indian journal of dermatologyUpdate on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Clinical cancer research : an official journal of the American Association for Cancer ResearchFoveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report.
Beyoglu eye journalTreatment of ocular surface squamous neoplasia in an Indian rural facility: a study of 38 eyes.
BMC ophthalmologySynchronous multiple primary malignancies or transdifferentiation?-A diagnostic challenge in a case of Xeroderma pigmentosum.
Indian journal of pathology & microbiologyBioinformatics analysis of ERCC family in pan-cancer and ERCC2 in bladder cancer.
Frontiers in immunologyCell cycle arrest combined with CDK1 inhibition suppresses genome-wide mutations by activating alternative DNA repair genes during genome editing.
The Journal of biological chemistryGenomic patterns of somatic mutations provide new prognostic, therapeutic, and biological insights in cancer.
Cell genomicsCase report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.
Frontiers in endocrinologyDermoscopy and In Vivo Confocal Microscopy Findings of Basal Cell Carcinomas in Xeroderma Pigmentosum Patients.
Indian journal of dermatologyXeroderma Pigmentosum with a Rapidly Proliferating Squamous Cell Carcinoma in a 4-Year Old Kid: A Rare Entity in Indian Subcontinent.
Journal of maxillofacial and oral surgeryXRCC1 and XPD polymorphisms: clinical outcomes and risk of prostate cancer in Bangladeshi population.
Molecular biology reportsDiseases with oral malignant potential: Need for change to inform research, policy, and practice.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.
Cell genomicsInvestigation of Polymorphisms in Global Genome Repair Genes in Patients With Ovarian Cancer in the Turkish Population.
Cancer control : journal of the Moffitt Cancer CenterSequential post-translational modifications regulate damaged DNA-binding protein DDB2 function.
Journal of biochemistryDoes the XPA-FEN1 Interaction Concern to Nucleotide Excision Repair or Beyond?
BiomoleculesImpaired B-cell function in ERCC2 deficiency.
Frontiers in immunologyA novel algorithm for the virtual screening of extensive small molecule libraries against ERCC1/XPF protein-protein interaction for the identification of resistance-bypassing potential anticancer molecules.
Turkish journal of biology = Turk biyoloji dergisi"Immunopeeling" Using Imiquimod for Xeroderma Pigmentosum.
Indian dermatology online journalSkin Cancer Induction by the Antimycotic Drug Voriconazole Is Caused by Impaired DNA Damage Detection Due to Chromatin Compaction.
The Journal of investigative dermatologyRevealing the UV response of melanocytes in xeroderma pigmentosum group A using patient-derived induced pluripotent stem cells.
Journal of dermatological scienceProtein-protein interactions in the core nucleotide excision repair pathway.
DNA repairGenome-wide analysis of transcription-coupled repair reveals novel transcription events in Caenorhabditis elegans.
PLoS geneticsCorrelative Analysis of ATM, RB1, ERCC2, and FANCC Mutations and Pathologic Complete Response After Neoadjuvant Chemotherapy in Patients with Muscle-invasive Bladder Cancer: Results from the SWOG S1314 Trial.
European urologyAdult-Onset Neuropsychiatric Symptoms as the Presenting Feature of Xeroderma Pigmentosum Group G: A Report of a Rare Case.
CureusA case of xeroderma pigmentosum group C with rare compound heterozygous mutations.
European journal of dermatology : EJDDiffuse large B-cell lymphoma with cutaneous involvement in a patient with xeroderma pigmentosum type C.
JAAD case reportsThe association between XPD rs13181 and rs1799793 polymorphism and oral cancer risk: evidence from a meta-analysis.
BMC cancerFaulty Gap Filling in Nucleotide Excision Repair Leads to Double-Strand Break Formation in Senescent Cells.
The Journal of investigative dermatologyThe Expression of PRAME as an Aid for Diagnosis and Evaluation of Histologic Margins of Intraepidermal Cutaneous Melanoma in Xeroderma Pigmentosum Patients.
Applied immunohistochemistry & molecular morphology : AIMMSubungual mass in a patient of xeroderma pigmentosum: Looking beyond malignant transformation.
Indian journal of dermatology, venereology and leprologyXPD stalled on cross-linked DNA provides insight into damage verification.
Nature structural & molecular biologyInsights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system.
Cell reportsXPC Protects against Carcinogen-Induced Histologic Progression to Lung Squamous Cell Carcinoma by Reduced Basal Epithelial Cell Proliferation.
CancersDNA repair ability in a patient with voriconazole-related squamous cell carcinoma that required differential diagnosis from xeroderma pigmentosum.
Journal of dermatological sciencePersistent TFIIH binding to non-excised DNA damage causes cell and developmental failure.
Nature communicationsImpression cytology of ocular surface in xeroderma pigmentosum.
Arquivos brasileiros de oftalmologiaDNA Repair Genetics and the Risk of Radiation Pneumonitis in Patients With Lung Cancer: A Systematic Review and Meta-analysis.
Clinical oncology (Royal College of Radiologists (Great Britain))Clinical prognostic significance of xeroderma pigmentosum group C and IFN‑γ in non‑small cell lung cancer.
Oncology lettersTwo siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration.
Pediatric blood & cancerEvidence for persistent UV-induced DNA damage and altered DNA damage response in xeroderma pigmentosa patient corneas.
Experimental eye researchPERIOCULAR HIGH RISK BCCS AFTER ADDITIONAL/PARALLEL INTAKE OF TORASEMIDE, MOXONIDINE AND MIRABEGRON: IMPORTANT LINKS TO SKIN CANCER RELATED (PHOTO-) NITROSOGENESIS IN THE CONTEXT OF PHARMACO-ONCOGENESIS.
Georgian medical newsDMC-siERCC2 hybrid nanoparticle enhances TRAIL sensitivity by inducing cell cycle arrest for glioblastoma treatment.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieProteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins.
Journal of dermatological scienceRelationship between XPA, XPB/ERCC3, XPF/ERCC4, and XPG/ERCC5 Polymorphisms and the Susceptibility to Head and Neck Carcinoma: A Systematic Review, Meta-Analysis, and Trial Sequential Analysis.
Medicina (Kaunas, Lithuania)p53 regulates diverse tissue-specific outcomes to endogenous DNA damage in mice.
Nature communicationsComplex Genomic Rearrangement Patterns in Malignant Pleural Mesothelioma due to Environmental Asbestos Exposure.
Journal of environmental pathology, toxicology and oncology : official organ of the International Society for Environmental Toxicology and CancerXPA tumor variant leads to defects in NER that sensitize cells to cisplatin.
NAR cancerEvaluation of Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum.
Arquivos brasileiros de oftalmologiaAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Xeroderma pigmentoso e no aconselhamento genético da família.
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Atualmente, não existe cura definitiva ou medicamento com aprovação pelo FDA específico para restabelecer a correção do DNA no xeroderma pigmentoso. O manejo concentra-se no bloqueio total da exposição à luz ultravioleta e na detecção com retirada cirúrgica precoce de lesões malignas.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Xeroderma pigmentoso. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/xeroderma-pigmentoso
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Xeroderma pigmentoso
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
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- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
