Journal articles: 'Xeroderma pigmentosum [XP]'

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Tostado, Guadalupe. "Xeroderma Pigmentosum: Important Oral Manifestations Case Report." Clinical Research and Clinical Trials 3, no. 1 (March 17, 2021): 01–04. http://dx.doi.org/10.31579/2693-4779/023.

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The Xeroderma pigmentosum [XP] is a rare inherited skin disorder and transmitted in an autosomal recessive manner. The aim of the present article is to report a XP case with oral manifestations and to discuss the role of the dental professional management of this entity. A 5 year old male presented lentigos all over the skin and predominated in photoexposed areas. Oral hygiene was good and dental affection was important. No lesions were observed in the lips, tongue and the rest of the bucal mucosa but multiples teeth with cavities were observed. Antibiotic treatment was started and surgical treatment. Besides dermatological, ophtamological and neurological management, XP patients require constant dental care and follow –up in order to control the occurrence of new lesions on the lips or inside oral cavity.

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Jagzape, Tushar, Arunita Bagga, Amol Gupta, and Damodhar Balpande. "Xeroderma Pigmentosum A Social Stigma Report in Two Siblings and Literature Review." Bangladesh Journal of Child Health 38, no. 1 (August 16, 2014): 40–43. http://dx.doi.org/10.3329/bjch.v38i1.20026.

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Xeroderma pigmentosum is an autosomal recessive, rare pigmentary atrophic disease of childhood that progresses to early development of senile changes in sun-exposed skin. Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Xeroderma pigmentosum is also known as DeSanctis- Cacchione syndrome. DOI: http://dx.doi.org/10.3329/bjch.v38i1.20026 Bangladesh J Child Health 2014; VOL 38 (1) : 40-43

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Mahuvakar, Ankit Dilip, Vijayalaxmi Kishanrao Ambulgekar, Darshan Premdas Meshram, Shaikh Mohsin Ahmed Abdul Nabi, and Mohammad A. Sammer. "A Series of Two Cases of Intraoral Malignancies in Patients with Xeroderma Pigmentosa." An International Journal of Otorhinolaryngology Clinics 5, no. 2 (2013): 111–14. http://dx.doi.org/10.5005/jp-journals-10003-1122.

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ABSTRACT Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by an increased frequency of skin cancer following minimal sunlight exposure. Multiple basal cell carcinomas and other skin malignancies frequently occur at a young age in those with XP. In fact, metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims. This series represent rare presentations of malignancies in non-sun-exposed areas in such patients. How to cite this article Mahuvakar AD, Meshram DP, Nabi SMAA, Ambulgekar VK, Sammer MA. A Series of Two Cases of Intraoral Malignancies in Patients with Xeroderma Pigmentosa. Int J Otorhinolaryngol Clin 2013;5(2):111-114.

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Lehmann, J., C. Seebode, M. Martens, and S. Emmert. "Xeroderma pigmentosum – Fakten und Perspektiven." Aktuelle Dermatologie 44, no. 05 (May 2018): 232–36. http://dx.doi.org/10.1055/s-0043-123031.

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ZusammenfassungDie Nukleotid-Exzisions-Reparatur (NER) ist für die Beseitigung von ultraviolett (UV) -induzierten DNA-Schäden und damit zur Vermeidung von Hautkrebs essenziell. Menschen mit einem genetischen Defekt in der NER, Xeroderma pigmentosum (XP) -Patienten, sind äußerst sonnenempfindlich. Sie entwickeln bereits in den ersten Lebensjahren Zeichen der vorzeitigen Hautalterung mit einem deutlich erhöhten Risiko zur Entwicklung von UV-induzierten kutanen Karzinomen. DNA-Reparaturdefektsyndrome werden vorrangig in der Klinik diagnostiziert und auf molekularer Ebene bestätigt. Für die seltene, rezessiv vererbte Erkrankung XP steht zum jetzigen Zeitpunkt leider noch keine kausale Therapie zur Verfügung, weshalb eine frühe Diagnosestellung umso bedeutsamer ist. Durch frühzeitige sowie konsequente UV-protektive Maßnahmen und eine regelmäßige Überprüfung der Haut im Zuge der Hautkrebsfrüherkennung werden sowohl die Prognose als auch Krankheitsverlauf maßgeblich verbessert.

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Belgaumkar, Vasudha A., Ravindranath B. Chavan, Aarti S. Salunke, and Pallavi P. Patil. "Xeroderma pigmentosum: a case series with ocular involvement." International Journal of Research in Dermatology 3, no. 4 (November 23, 2017): 545. http://dx.doi.org/10.18203/issn.2455-4529.intjresdermatol20175381.

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<p class="abstract"><span lang="EN-IN">Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular photosensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xeroderma pigmentosum predominantly affects the UV exposed ocular surface, resulting in eyelid atrophy and cancers, corneal dryness, exposure keratopathy, and conjunctival tumors. Hereby, we report four cases of XP with ocular pathology. First case had ectropion, corneal abrasion, keratomalacia, and necrotic ulcer in periorbital area and second case had corneal opacity, conjuctival erythema and photophobia. The other two cases were siblings of second patient who also had photophobia. These cases illustrate the role of DNA repair in protection of the eyes from UV damage.</span></p>

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Martens, M. C., L. Boeckmann, and S. Emmert. "Genetisch bedingte Hauterkrankungen – Xeroderma pigmentosum und das CEDNIK-Syndrom." Aktuelle Dermatologie 46, no. 08/09 (August 20, 2020): 375–78. http://dx.doi.org/10.1055/a-1148-3867.

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ZusammenfassungDie Rostocker Hautklinik ist Europäisches Referenznetzwerkzentrum für seltene Hauterkrankungen mit den besonderen Schwerpunkten Xeroderma pigmentosum und Ichthyosen. Diese Themen vertreten wir auch in der medizinischen Grundlagenforschung.Xeroderma pigmentosum (XP) ist eine seltene, autosomal-rezessive Erkrankung, die entsprechend der Gendefekte in 7 Komplementationsgruppen – XP-A bis XP-G sowie die sog. XP-Variante (XP-V) – eingeteilt wird. XP ist ein Nukleotid-Exzisions-Reparatur-Defektsyndrom und äußert sich v. a. durch vorzeitige Hautalterung und frühzeitige Entwicklung von Hauttumoren.Das seltene, neurokutane CEDNIK-Syndrom ist eine autosomal-rezessive Erkrankung, der eine Loss-of-Function-Mutation in SNAP29 zugrunde liegt. SNAP29 ist ein SNARE-Protein und an intrazellulären Membranfusionen beteiligt. CEDNIK ist ein Akronym für den mit dem Syndrom assoziierten Symptomkomplex aus zerebraler Dysgenese, Neuropathie, Ichthyose und Palmoplantarkeratosen. CEDNIK-Patienten weisen neben der Ichthyose zudem Gedeihstörungen, eine psychomotorische Retardierung und faziale Dysmorphien auf.

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Martens, Marie Christine, Steffen Emmert, and Lars Boeckmann. "Xeroderma Pigmentosum: Gene Variants and Splice Variants." Genes 12, no. 8 (July 29, 2021): 1173. http://dx.doi.org/10.3390/genes12081173.

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The nucleotide excision repair (NER) is essential for the repair of ultraviolet (UV)-induced DNA damage, such as cyclobutane pyrimidine dimers (CPDs) and 6,4-pyrimidine-pyrimidone dimers (6,4-PPs). Alterations in genes of the NER can lead to DNA damage repair disorders such as Xeroderma pigmentosum (XP). XP is a rare autosomal recessive genetic disorder associated with UV-sensitivity and early onset of skin cancer. Recently, extensive research has been conducted on the functional relevance of splice variants and their relation to cancer. Here, we focus on the functional relevance of alternative splice variants of XP genes.

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Theron, Therina, Maria I. Fousteri, Marcel Volker, Lorna W. Harries, Elena Botta, Miria Stefanini, Mitsuo Fujimoto, et al. "Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome." Molecular and Cellular Biology 25, no. 18 (September 15, 2005): 8368–78. http://dx.doi.org/10.1128/mcb.25.18.8368-8378.2005.

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ABSTRACT Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS). We previously showed that in cells from two XP-D/CS patients, breaks were introduced into cellular DNA on exposure to UV damage, but these breaks were not at the sites of the damage. In the present work, we show that three further XP-D/CS patients show the same peculiar breakage phenomenon. We show that these breaks can be visualized inside the cells by immunofluorescence using antibodies to either γ-H2AX or poly-ADP-ribose and that they can be generated by the introduction of plasmids harboring methylation or oxidative damage as well as by UV photoproducts. Inhibition of RNA polymerase II transcription by four different inhibitors dramatically reduced the number of UV-induced breaks. Furthermore, the breaks were dependent on the nucleotide excision repair (NER) machinery. These data are consistent with our hypothesis that the NER machinery introduces the breaks at sites of transcription initiation. During transcription in UV-irradiated XP-D/CS cells, phosphorylation of the carboxy-terminal domain of RNA polymerase II occurred normally, but the elongating form of the polymerase remained blocked at lesions and was eventually degraded.

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Bootsma, D., W. Keijzer, E. G. Jung, and E. Bohnert. "Xeroderma pigmentosum complementation group XP-I withdrawn." Mutation Research/DNA Repair 218, no. 2 (September 1989): 149–51. http://dx.doi.org/10.1016/0921-8777(89)90021-9.

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Al Wayli, Hessa. "Xeroderma pigmentosum and its dental implications." European Journal of Dentistry 09, no. 01 (January 2015): 145–48. http://dx.doi.org/10.4103/1305-7456.149664.

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ABSTRACTXeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet (UV) radiation and carcinogenic agents. Important clinical features are: Intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous macules, and malignant lesions in sun-exposed areas, including basocellular carcinoma, squamous cell carcinoma, and melanoma. There is a great involvement of many parts of the body, especially head and neck. Oral implications such as severe oral pain and mouth opening limitation were present due to perioral scars. The disorder is associated more commonly in populations where marriage of close blood relatives is common. Treatment of the disorder includes avoidance of UV radiation, topical application of 5-fluorouracil to treat actinic keratoses, and regular evaluation by an ophthalmologist, dermatologist, and neurologist. Genetic counseling is important aspects as an increased incidence of consanguineous marriages have been reported with this disorder. In addition, this paper discuss some important aspects concerning the role of the dental professional management of this entity, since XP patients require constant dental care and follow-up in order to control the occurrence of new lesions on the lips or inside oral cavity.

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Pramitha, Riezky Januar, and Sawitri Sawitri. "Malignant Melanoma in Child with Xeroderma Pigmentosum: A Rare Case." Berkala Ilmu Kesehatan Kulit dan Kelamin 32, no. 1 (March 31, 2020): 70. http://dx.doi.org/10.20473/bikk.v32.1.2020.70-74.

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Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by photosensitivity, cutaneous pigmentary changes, and malignant tumor development at an early age. The basic defect underlying the clinical manifestations is nucleotide excision repair defect, leading to defective repair of ultraviolet (UV)-induced DNA. XP patients who are younger than 20 years of age have more than 1000-fold increased risk of developing malignant neoplasms of the skin, which commonly include squamous cell carcinoma, basal cell carcinoma, fibrosarcoma, and malignant melanoma. Malignant melanoma arises in only about 3% of XP patients. Purpose: To report a case of malignant melanoma in a child with XP. Case: A 7-years-old girl presented with multiple hypopigmentation and hyperpigmentation macules since age of two, throughout the body, more on sun-exposed areas. The physical examination showed solitary tumor extensive ulcero- proliferative surface with areas of hemorrhage and blackish pigmentation on the vertex region. Histological examination revealed a feature of nodular malignant melanoma, and the condition became worse after she underwent two cycles of chemotherapy. Discussion: Despite the rare occurrence, the nodular type of malignant melanoma in XP patients is the most aggressive and responsible for the fatal condition. Conclusion: Early detection of XP is necessary due to its fast-growing nature and high metastatic possibility as well as mortality index.

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Mahuvakar, Ankit Dilip, Darshan Premdas Meshram, Vijayalaxmi Kisanrao Ambulgekar, Mohsin Abdul Nabi Shaikh, and Mohammad A. Sameer. "A Series of Two Cases of Intraoral Malignancies in Patients with Xeroderma Pigmentosa." An International Journal of Otorhinolaryngology Clinics 5, no. 2 (2013): 21–24. http://dx.doi.org/10.5005/aijoc-5-2-21.

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ABSTRACT Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by an increased frequency of skin cancer following minimal sunlight exposure. Multiple basal cell carcinomas and other skin malignancies frequently occur at a young age in those with XP. In fact, metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims. This series represent rare presentations of malignancies in non-sun-exposed areas in such patients.

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Onishi, Masazumi, Kanako Tsunoda, Fumihiko Maeda, Shinichi Moriwaki, and Hiroo Amano. "Angiosarcoma of the Auricle in a Patient with Xeroderma Pigmentosum Variant." Case Reports in Dermatology 12, no. 2 (August 18, 2020): 144–49. http://dx.doi.org/10.1159/000508884.

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Xeroderma pigmentosum (XP) is an inherited autosomal recessive disorder characterized by photosensitivity and an increased risk of developing multiple skin neoplasms at sites exposed to the sun. We report a 73-year-old Japanese man with angiosarcoma of the auricle and an XP-variant, which is a very rare condition. In this case, long-term physical stimulation due to auricular deformation after surgery may have been the cause. Angiosarcoma associated with XP has a better prognosis than common angiosarcoma, perhaps because of the smaller tumor size. As XP patients are at high risk of skin neoplasms, they consult dermatologists regularly, and therefore skin tumors are likely to be detected early.

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YAMAGUCHI, Jun, Shuhei FUKURO, Seiji KONDO, Kiyoshi NISHIOKA, and Yoshiaki SATOH. "Basal cell epithelioma in a xeroderma pigmentosum (XP) patient." Skin Cancer 8, no. 1 (1993): 67–69. http://dx.doi.org/10.5227/skincancer.8.67.

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Fischer, E., W. Keijzer, H. W. Thielmann, O. Popanda, E. Bohnert, L. Edler, E. G. Jung, and D. Bootsma. "A ninth complementation group in xeroderma pigmentosum, XP I." Mutation Research/DNA Repair Reports 145, no. 3 (May 1985): 217–25. http://dx.doi.org/10.1016/0167-8817(85)90030-6.

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Raza Rizvi, Syed Ali, Faraz Yusuf, A. K. Amitava, S. H. Arif, M. Vasenwala, and Ghazala Mehdi. "Rare orbital malignancies in xeroderma pigmentosum – a case series and review of literature." Asian Journal of Ophthalmology 13, no. 3 (April 1, 2014): 106–10. http://dx.doi.org/10.35119/asjoo.v13i3.133.

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Xeroderma pigmentosum (XP) is a rare genodermatosis, with a defect affecting recovery of ultraviolet-induced damages and characterized by a high rate of malignancies of the exposed skin areas. Inheritance is autosomal recessive and consanguinity of parents is common. We report two siblings with a history of consanguinity having XP with rare orbital malignancies. The first case had orbital amelanotic melanoma and the second case had sebaceous gland carcinoma (SGC) with orbital extension. In this case series, we have discussed and reviewed orbital malignancies in XP with respect to this report and other cases in the literature. Although early detection and treatment of these malignancies will reduce morbidity and mortality, genetic counselling remains the most important protective measures for XP.

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Mareddy, Subhash, Jithendra Reddy, Subhas Babu, and Preethi Balan. "Xeroderma Pigmentosum:Man Deprived of His Right to Light." Scientific World Journal 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/534752.

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Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. Estimated incidences vary from 1 in 20,000 in Japan to 1 in 250,000 in the USA, and approximately 2.3 per million live births in Western Europe. Diagnosis is made clinically by the presence of unusual sunburns or lentiginosis or onset of cancers at an early age. It is confirmed by cellular tests for defective DNA repair. Although there is no cure for XP as of now, skin problems can be ameliorated with the use of sunscreens, sun avoidance methods, and recurrent tumor excisions. Oral isotretinoin and topical application of 5-fluorouracil to treat actinic keratoses are other therapeutic options. T4N5 and photolyase liposomal lotions are innovations in the therapy of XP. Genetic counselling implicating the effect of consanguineous marriages should be considered in the management of XP patients.

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Tsutakawa, Susan E., Altaf H. Sarker, Clifford Ng, Andrew S. Arvai, David S. Shin, Brian Shih, Shuai Jiang, et al. "Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations." Proceedings of the National Academy of Sciences 117, no. 25 (June 10, 2020): 14127–38. http://dx.doi.org/10.1073/pnas.1921311117.

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Xeroderma pigmentosum group G (XPG) protein is both a functional partner in multiple DNA damage responses (DDR) and a pathway coordinator and structure-specific endonuclease in nucleotide excision repair (NER). Different mutations in the XPG geneERCC5lead to either of two distinct human diseases: Cancer-prone xeroderma pigmentosum (XP-G) or the fatal neurodevelopmental disorder Cockayne syndrome (XP-G/CS). To address the enigmatic structural mechanism for these differing disease phenotypes and for XPG’s role in multiple DDRs, here we determined the crystal structure of human XPG catalytic domain (XPGcat), revealing XPG-specific features for its activities and regulation. Furthermore, XPG DNA binding elements conserved with FEN1 superfamily members enable insights on DNA interactions. Notably, all but one of the known pathogenic point mutations map to XPGcat, and both XP-G and XP-G/CS mutations destabilize XPG and reduce its cellular protein levels. Mapping the distinct mutation classes provides structure-based predictions for disease phenotypes: Residues mutated in XP-G are positioned to reduce local stability and NER activity, whereas residues mutated in XP-G/CS have implied long-range structural defects that would likely disrupt stability of the whole protein, and thus interfere with its functional interactions. Combined data from crystallography, biochemistry, small angle X-ray scattering, and electron microscopy unveil an XPG homodimer that binds, unstacks, and sculpts duplex DNA at internal unpaired regions (bubbles) into strongly bent structures, and suggest how XPG complexes may bind both NER bubble junctions and replication forks. Collective results support XPG scaffolding and DNA sculpting functions in multiple DDR processes to maintain genome stability.

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Kobaisi, Farah, Eric Sulpice, Caroline Barette, Nour Fayyad, Marie-Odile Fauvarque, Bassam Badran, Mohammad Fayyad-Kazan, Hussein Fayyad-Kazan, Xavier Gidrol, and Walid Rachidi. "Isoconazole and Clemizole Hydrochloride Partially Reverse the Xeroderma Pigmentosum C Phenotype." International Journal of Molecular Sciences 22, no. 15 (July 29, 2021): 8156. http://dx.doi.org/10.3390/ijms22158156.

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Xeroderma Pigmentosum protein C (XPC) is involved in recognition and repair of bulky DNA damage such as lesions induced by Ultra Violet (UV) radiation. XPC-mutated cells are, therefore, photosensitive and accumulate UVB-induced pyrimidine dimers leading to increased cancer incidence. Here, we performed a high-throughput screen to identify chemicals capable of normalizing the XP-C phenotype (hyper-photosensitivity and accumulation of photoproducts). Fibroblasts from XP-C patients were treated with a library of approved chemical drugs. Out of 1280 tested chemicals, 16 showed ≥25% photo-resistance with RZscore above 2.6 and two drugs were able to favor repair of 6-4 pyrimidine pyrimidone photoproducts (6-4PP). Among these two compounds, Isoconazole could partially inhibit apoptosis of the irradiated cells especially when cells were post-treated directly after UV irradiation while Clemizole Hydrochloride-mediated increase in viability was dependent on both pre and post treatment. No synergistic effect was recorded following combined drug treatment and the compounds exerted no effect on the proliferative capacity of the cells post UV exposure. Amelioration of XP-C phenotype is a pave way towards understanding the accelerated skin cancer initiation in XP-C patients. Further examination is required to decipher the molecular mechanisms targeted by these two chemicals.

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Mercer, Danielle, Annette Hurley, and Fern Tsien. "Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration." Journal of the American Academy of Audiology 28, no. 01 (January 2017): 080–90. http://dx.doi.org/10.3766/jaaa.15112.

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AbstractXeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss.Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss.This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinical features typical of Charcot-Marie-Tooth disease.We obtained audiological evaluations over a course of 11 yr, including serial audiograms, auditory processing disorders evaluations, and electrophysiological testing.Hearing sensitivity has progressed from a unilateral mild high-frequency sensorineural hearing loss to a bilateral sloping moderate to severe/profound sensorineural hearing loss. In addition to the dramatic decline in hearing sensitivity, the patient demonstrates global auditory processing deficits, indicating a central component to his hearing loss.These findings emphasize the importance of the contribution of audiological evaluations to the diagnosis of a genetic disorder. Periodic evaluations of hearing sensitivity and auditory processing can provide information on disease progression in patients with XP with neural degeneration.

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Fassihi, Hiva, Mieran Sethi, Heather Fawcett, Jonathan Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, et al. "Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect." Proceedings of the National Academy of Sciences 113, no. 9 (February 16, 2016): E1236—E1245. http://dx.doi.org/10.1073/pnas.1519444113.

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Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins.

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Pattison, Jillian. "Xeroderma Pigmentosum: An Uncommon Risk Factor for Aggressive Follicular Thyroid Carcinoma." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A905. http://dx.doi.org/10.1210/jendso/bvab048.1847.

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Abstract Introduction: Follicular thyroid carcinoma (FTC) is the second most common thyroid cancer, which typically presents in an older populations, and carries a near 100% 5-year relative survival rate if diagnosed prior to cancer spreading outside of the thyroid. Clinical Case: A 26-year old female presented to emergency room with persistent jaw pain, despite course of antibiotics prescribed by dentist. She has a past medical history of xeroderma pigmentosum (XP) with over 130 surgeries for malignant skin lesions, as well as benign multinodular goiter for which she underwent total thyroidectomy at the age of 18, with pathology reporting benign tissue and follicular adenoma. Emergency room imaging of maxillofacial/sinus incompletely captured a mass in the left paratracheal region, extending into the lumen of the trachea. Patient was then transferred to University Hospital for further evaluation. Dedicated neck imaging confirmed 4.6cm mass in expected area of thyroid gland, invading into left tracheal wall, cervical esophagus, and hypopharynx. Additional imaging revealed numerous pulmonary nodules, and a 4mm enhancing focus of left superior temporal gyrus. Nuclear positron emission tomography imaging revealed regions of hypermetabolic activity in the left maxillary sinus, the facial nodules, cervical lymph nodes, and mass like region of hypermetabolic activity in the thyroid bed. Biopsy confirmed follicular thyroid parenchyma, concerning for follicular carcinoma. Patient then underwent mass resection and tracheostomy. Some thyroid tissue was left on contralateral side to malignancy due to adjacency to only functional recurrent laryngeal nerve. Pathology following surgery confirmed follicular thyroid carcinoma, with evidence of angioinvasion. Thyroglobulin mass spectrometry prior to surgery was 302 ng/mL. Conclusion: While it is well known that patients with XP suffer from early development of mucocutaneous and ocular cancers in sun-exposed areas, these patients also have increased risk for multinodular goiter as well as internal malignancies. Furthermore, treatment of any internal malignancy is limited due to inability for patients with XP to be treated with radiation. Providers for patients with XP should have very low thresholds to investigate all new symptoms aggressively, maximizing chances of diagnosing malignancies in early stages.

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Shanbhag, Niraj M., Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, et al. "Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F." Neurology Genetics 4, no. 3 (June 2018): e240. http://dx.doi.org/10.1212/nxg.0000000000000240.

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ObjectiveTo describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting.MethodsWe report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F.ResultsBoth patients presented with adult-onset progressive neurologic deterioration involving chorea, ataxia, hearing loss, cognitive deficits, profound brain atrophy, and a history of skin photosensitivity, skin freckling, and/or skin neoplasms. We identified compound heterozygous pathogenic mutations in ERCC4 and confirmed deficient NER capacity in skin fibroblasts from both patients.ConclusionsThese cases illustrate the role of NER dysfunction in neurodegeneration and how adult-onset neurodegeneration could be the major symptom bringing XP-F patients to clinical attention. XP-F should be considered by neurologists in the differential diagnosis of patients with adult-onset progressive neurodegeneration accompanied by global brain atrophy and a history of heightened sun sensitivity, excessive freckling, and skin malignancies.

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Aslam, Amreen, Noopur Gupta, Thirumurthy Velpandian, and Seema Sen. "Does ocular inflammation play a role in xeroderma pigmentosum with endothelial dysfunction: an immunological study." BMJ Case Reports 11, no. 1 (November 2018): e225384. http://dx.doi.org/10.1136/bcr-2018-225384.

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We report a case of xeroderma pigmentosum (XP) with endothelial dysfunction where the analysis of tears revealed elevated levels of proinflammatory cytokines, even in the absence of active inflammation and neovascularisation of the ocular surface. Although the role of ultraviolet (UV) radiation-induced inflammation in the occurrence of ocular manifestations of XP is known, little is published on the molecular mechanisms and there are no reports quantifying the presence of inflammatory cytokines in the tears of patients with ocular involvement of XP. Tear analysis demonstrated an increase in inflammatory cytokines and chemokines, especially interleukin-8 (2.38 ng/µg), tumour necrosis factor alpha (0.87 ng/µg) and granulocyte monocyte colony stimulating factor (0.44 ng/µg) as compared with the control eye. Effective management of the underlying UV-induced inflammation and promoting DNA repair may play a vital role in managing ocular manifestations and its sequelae in patients of XP.

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Ueda, Takahiro, Emmanuel Compe, Philippe Catez, Kenneth H. Kraemer, and Jean-Marc Egly. "Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients." Journal of Experimental Medicine 206, no. 13 (November 23, 2009): 3031–46. http://dx.doi.org/10.1084/jem.20091892.

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Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP). Many XP patients are compound heterozygotes with a “causative” XPD point mutation R683W and different second mutant alleles, considered “null alleles.” However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele. Here, we report XP patients carrying XPD/R683W and a second XPD allele either XPD/Q452X, /I455del, or /199insPP. We performed a systematic study of the effect of these XPD mutations on several enzymatic functions of TFIIH and found that each mutation exhibited unique biochemical properties. Although all the mutations inhibited the nucleotide excision repair (NER) by disturbing the XPD helicase function, each of them disrupted specific molecular steps during transcription: XPD/Q452X hindered the transactivation process, XPD/I455del disturbed RNA polymerase II phosphorylation, and XPD/199insPP inhibited kinase activity of the cdk7 subunit of TFIIH. The broad range and severity of clinical features in XP patients arise from a broad set of deficiencies in NER and transcription that result from the combination of mutations found on both XPD alleles.

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DiGiovanna, John J., Nicholas Patronas, David Katz, Donita Abangan, and Kenneth H. Kraemer. "Xeroderma Pigmentosum: Spinal Cord Astrocytoma with 9-Year Survival after Radiation and Isotretinoin Therapy." Journal of Cutaneous Medicine and Surgery 2, no. 3 (January 1998): 153–58. http://dx.doi.org/10.1177/120347549800200308.

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Background: Patients with xeroderma pigmentosum (XP) frequently develop sunlight-induced skin cancer. Infrequently, internal neoplasms may also occur. A 21-year-old patient with XP, who had many skin cancers, developed a rare internal tumour — a grade II diffuse fibrillary spinal cord astrocytoma — during a break in a therapeutic trial of isotretinoin for skin cancer prevention. Treatment of neoplasms in XP patients presents special difficulties because of their defect in DNA repair. Objective: The study objective was to raise awareness of the cancer surveillance process in XP patients and the concerns involved in choice of therapy. Methods: Since the spinal cord tumour was inoperable, the patient was treated with x-radiation, continued on isotretinoin treatment and was followed closely for tumour response. Results: Despite sensitivity to sunlight, the patient had a normal acute response to the x-ray treatment without excessive skin reaction. Serial examinations by magnetic resonance imaging (MRI) starting 8 months after x-ray treatment was initiated, showed a marked gadolinium enhancement followed by regression. This clearing was first seen at 2 years after biopsy and persisted to at least 9 years after treatment. Conclusion: In contrast to the exaggerated sensitivity to UV radiation, XP patients may tolerate therapeutic doses of x-radiation. Isotretinoin treatment may have contributed to the good response of this spinal cord astrocytoma.

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Karentz, D., and J. E. Cleaver. "Repair-deficient xeroderma pigmentosum cells made UV light resistant by fusion with X-ray-inactivated Chinese hamster cells." Molecular and Cellular Biology 6, no. 10 (October 1986): 3428–32. http://dx.doi.org/10.1128/mcb.6.10.3428.

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Xeroderma pigmentosum (XP) is an autosomal recessive human disease, characterized by an extreme sensitivity to sunlight, caused by the inability of cells to repair UV light-induced damage to DNA. Cell fusion was used to transfer fragments of Chinese hamster ovary (CHO) chromosomes into XP cells. The hybrid cells exhibited UV resistance and DNA repair characteristics comparable to those expressed by CHO cells, and their DNA had greater homology with CHO DNA than did the DNA from XP cells. Control experiments consisted of fusion of irradiated and unirradiated XP cells and repeated exposure of unfused XP cells to UV doses used for hybrid selection. These treatments did not result in an increase in UV resistance, repair capability, or homology with CHO DNA. The hybrid cell lines do not, therefore, appear to be XP revertants. The establishment of these stable hybrid cell lines is an initial step toward identifying and cloning CHO DNA repair genes that complement the XP defect in human cells. The method should also be applicable to cloning genes for other diseases, such as ataxia-telangiectasia and Fanconi's anemia.

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Karentz, D., and J. E. Cleaver. "Repair-deficient xeroderma pigmentosum cells made UV light resistant by fusion with X-ray-inactivated Chinese hamster cells." Molecular and Cellular Biology 6, no. 10 (October 1986): 3428–32. http://dx.doi.org/10.1128/mcb.6.10.3428-3432.1986.

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Xeroderma pigmentosum (XP) is an autosomal recessive human disease, characterized by an extreme sensitivity to sunlight, caused by the inability of cells to repair UV light-induced damage to DNA. Cell fusion was used to transfer fragments of Chinese hamster ovary (CHO) chromosomes into XP cells. The hybrid cells exhibited UV resistance and DNA repair characteristics comparable to those expressed by CHO cells, and their DNA had greater homology with CHO DNA than did the DNA from XP cells. Control experiments consisted of fusion of irradiated and unirradiated XP cells and repeated exposure of unfused XP cells to UV doses used for hybrid selection. These treatments did not result in an increase in UV resistance, repair capability, or homology with CHO DNA. The hybrid cell lines do not, therefore, appear to be XP revertants. The establishment of these stable hybrid cell lines is an initial step toward identifying and cloning CHO DNA repair genes that complement the XP defect in human cells. The method should also be applicable to cloning genes for other diseases, such as ataxia-telangiectasia and Fanconi's anemia.

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Shah, S. B., U. Hariharan, B. K. Naithani, and A. K. Bhargava. "Clinical Pearls in Anesthesia for Xeroderma Pigmentosum: A Case Report." Open Anesthesiology Journal 9, no. 1 (November 20, 2015): 36–38. http://dx.doi.org/10.2174/1874321801509010036.

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Xeroderma Pigmentosum (XP) is a rare autosomal recessive (AR) disease characterized by hypersensitivity of the skin to ultra violet (UV) radiation, resulting in a high frequency of UV induced skin tumors and progressive neurological complications at an early age. Through the following case report we emphasize that perioperative management of xeroderma patients entails meticulous evaluation for neurological abnormalities, shielding the skin from OT (operation theatre) lights by using protective clothing, sunscreen and UV blocking film as well as avoidance of genotoxic drugs like volatile anaesthetics and paracetamol. One must be prepared for the possibility of difficult mask ventilation (we used a mask one size larger), difficult intubation and prolonged effect of muscle relaxants (as in our case) due to skin atrophy, neoplasia, joint contracture and neuronal dysfunction.

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Görürgöz, Cansu, Nilsu Sakalli, Ferah Mutlu Kul, and Nurhan Uslu Özalp. "Ultrasonographic Evaluation of Maxillofacial Swelling in a Pediatric Patient with Xeroderma Pigmentosum." Balkan Journal of Dental Medicine 23, no. 3 (November 1, 2019): 163–66. http://dx.doi.org/10.2478/bjdm-2019-0029.

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Summary Background/Aim: Xeroderma pigmentosum (XP) is an autosomal recessive skin disease. Affected patients have skin problems, oral mucosa and neurologic symptoms. In these patients, erythematous, hyperpigmented or malignant skin lesions may occur in the sun-exposed areas. Leukoplakia, erythroplakia, and squamous cell carcinoma of the tip of the tongue and lips are common oral lesions associated with XP. Case report: Treatment of the disease included protection from ultraviolet radiation, topical application to treat actinic keratitis, and multidisciplinary approaches by physicians. Conclusions: Even though USG in dentistry is not very common, it is a non-invasive, cost-effective, readily available and repeatable diagnostic imaging method. Thus, USG should take place as a routine diagnostic tool in dentistry, especially for patients who are medically compromised.

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Ramanathan, Vijaya, and Anand Ramanathan. "Molecular mechanism in a rare autosomal recessive case of xeroderma pigmentosum - a case report." National Journal of Clinical Anatomy 03, no. 03 (July 2014): 178–83. http://dx.doi.org/10.1055/s-0039-3401760.

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AbstractChromosomal instability syndromes are a special group of disorders of cytogenetic interest which comprises of several rare, autosomal recessive conditions. Following exposure to sunlight, excessive chromosomal instability, breakage, defective nucleotide excision repair in DNA, defective apoptosis and increased susceptibility to neoplasia occurs. Xeroderma pigmentosum (XP) is characterised by the presence of chromosomal breakages, associated with increased frequency of sister chromatid exchanges. This is a case report of a 6 year old, male child having XP with dermal and ocular manifestations. Chromosomal breaks in chromosomal spread are seen. If it occurs in families, consanguinous marriages should be avoided; appropriate genetic counselling suggested and simple sun guarding techniques with appropriate protection from UV exposure can reduce the morbidity in these patients.

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Itoh, Toshiki, Cristin O'Shea, and Stuart Linn. "Impaired Regulation of Tumor Suppressor p53 Caused by Mutations in the Xeroderma Pigmentosum DDB2 Gene: Mutual Regulatory Interactions between p48DDB2 and p53." Molecular and Cellular Biology 23, no. 21 (November 1, 2003): 7540–53. http://dx.doi.org/10.1128/mcb.23.21.7540-7553.2003.

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ABSTRACT Tumor suppressor p53 controls cell cycle progression and apoptosis following DNA damage, thus minimizing carcinogenesis. Mutations in the human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E). We report here that XP-E strains are defective in UV irradiation-induced apoptosis due to severely reduced basal and UV-induced p53 levels. These defects are restored by infection with a p53 cDNA expression construct or with a DDB2 expression construct if and only if it contains intron 4, which includes a nonmutated p53 consensus-binding site. We propose that both before and after UV irradiation, DDB2 directly regulates p53 levels, while DDB2 expression is itself regulated by p53.

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Schelini, Maria Claudia, Luis Fernando O. B. Chaves, Marcia C. Toledo, Francisco W. Rodrigues, Tauan de Oliveira, David L. C. Isaac, and Marcos Avila. "Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster." Journal of Ophthalmology 2019 (October 31, 2019): 1–8. http://dx.doi.org/10.1155/2019/4818162.

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Purpose. Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The present study describes the main ophthalmologic features and symptoms in patients with XP in this case series. Methods. Patients were examined consecutively at the University Hospital of the Federal University of Goias between January 2016 and June 2018. All patients underwent ophthalmologic examination and were asked about their ophthalmological history and the presence of ocular symptoms. Results. Twenty-one patients with genetic confirmation were evaluated. The genetic variants XPV and XPC were detected in the patients. The most prevalent findings include eyelid changes, observed in 80.9% of the patients, and ocular surface changes as punctate keratopathy, occurring in 16 patients (76.2%), corneal neovascularization, and corneal opacities. Six patients (28.5%) presented corneoconjunctival tumor. More than half of patients had previous history of treatment of ocular neoplasia. Ocular burning was the most reported symptom. Conclusions. The ocular characteristics identified in this study corroborate the existing literature, mainly related to the surface. Concerning the XP variant and the gravity of ocular signs, XPC has earlier and more severe symptoms than XPV. Due to their relative rarity, publications of XP cases are important to understand the possible damages caused by the disease in the eyes and surrounding area.

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Nasrallah, A., N. Fayyad, F. Kobaisi, B. Badran, H. Fayyad-Kazan, M. Fayyad-Kazan, M. Sève, and W. Rachidi. "Xeroderma Pigmentosum C: A Valuable Tool to Decipher the Signaling Pathways in Skin Cancers." Oxidative Medicine and Cellular Longevity 2021 (April 27, 2021): 1–14. http://dx.doi.org/10.1155/2021/6689403.

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Xeroderma pigmentosum (XP) is a rare autosomal genodermatosis that manifests clinically with pronounced sensitivity to ultraviolet (UV) radiation and the high probability of the occurrence of different skin cancer types in XP patients. XP is mainly caused by mutations in XP-genes that are involved in the nucleotide excision repair (NER) pathway that functions in the removal of bulky DNA adducts. Besides, the aggregation of DNA lesions is a life-threatening event that might be a key for developing various mutations facilitating cancer appearance. One of the key players of NER is XPC that senses helical distortions found in damaged DNA. The majority of XPC gene mutations are nonsense, and some are missense leading either to the loss of XPC protein or to the expression of a truncated nonfunctional version. Given that no cure is yet available, XPC patients should be completely protected and isolated from all types of UV radiations (UVR). Although it is still poorly understood, the characterization of the proteomic signature of an XPC mutant is essential to identify mediators that could be targeted to prevent cancer development in XPC patients. Unraveling this proteomic signature is fundamental to decipher the signaling pathways affected by the loss of XPC expression following exposure to UVB radiation. In this review, we will focus on the signaling pathways disrupted in skin cancer, pathways modulating NER’s function, including XPC, to disclose signaling pathways associated with XPC loss and skin cancer occurrence.

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Ben Rekaya, Mariem, Nadia Laroussi, Olfa Messaoud, Mariem Jones, Manel Jerbi, Chokri Naouali, Yosra Bouyacoub, et al. "A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy." BioMed Research International 2014 (2014): 1–8. http://dx.doi.org/10.1155/2014/256245.

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Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of thePOLHgene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to thePOLHgene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutationPOLHNG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

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Moreno, Natália Cestari, Tiago Antonio de Souza, Camila Carrião Machado Garcia, Nathalia Quintero Ruiz, Camila Corradi, Ligia Pereira Castro, Veridiana Munford, Susan Ienne, Ludmil B. Alexandrov, and Carlos Frederico Martins Menck. "Whole-exome sequencing reveals the impact of UVA light mutagenesis in xeroderma pigmentosum variant human cells." Nucleic Acids Research 48, no. 4 (December 19, 2019): 1941–53. http://dx.doi.org/10.1093/nar/gkz1182.

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Abstract UVA-induced mutagenesis was investigated in human pol eta-deficient (XP-V) cells through whole-exome sequencing. In UVA-irradiated cells, the increase in the mutation frequency in deficient cells included a remarkable contribution of C>T transitions, mainly at potential pyrimidine dimer sites. A strong contribution of C>A transversions, potentially due to oxidized bases, was also observed in non-irradiated XP-V cells, indicating that basal mutagenesis caused by oxidative stress may be related to internal tumours in XP-V patients. The low levels of mutations involving T induced by UVA indicate that pol eta is not responsible for correctly replicating T-containing pyrimidine dimers, a phenomenon known as the ‘A-rule’. Moreover, the mutation signature profile of UVA-irradiated XP-V cells is highly similar to the human skin cancer profile, revealing how studies involving cells deficient in DNA damage processing may be useful to understand the mechanisms of environmentally induced carcinogenesis.

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Itoh, T., T. Ono, and M. Yamaizumi. "026 What is xeroderma pigmentosum complementation group E (XP-E)?-biochemical analyses of XP-E cells." Journal of Dermatological Science 15, no. 2 (August 1997): 107. http://dx.doi.org/10.1016/s0923-1811(97)81728-8.

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Barber, Chris. "Rare health conditions 37: rabies, Kawasaki disease, xeroderma pigmentosum (XP), postural orthostatic tachycardia syndrome (PoTS)." British Journal of Healthcare Assistants 14, no. 7 (July 2, 2020): 336–41. http://dx.doi.org/10.12968/bjha.2020.14.7.336.

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Chris Barber, Registered Nurse for Those with a Learning Disability The purpose of this series is to briefly highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000 and many healthcare assistants (HCAs) and nurses will encounter some of these conditions, given the high number of these conditions. This 37th article will briefly explore four of these conditions: rabies, Kawasaki disease, xeroderma pigmentosum (XP) and postural orthostatic tachycardia syndrome (PoTS).

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Wagner, Simon D., John G. Elvin, Paul Norris, Jane M. McGregor, and Michael S. Neuberger. "Somatic hypermutation of Ig genes in patients with xeroderma pigmentosum (XP-D)." International Immunology 8, no. 5 (1996): 701–5. http://dx.doi.org/10.1093/intimm/8.5.701.

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40

Friedberg, E. "The discovery that xeroderma pigmentosum (XP) results from defective nucleotide excision repair." DNA Repair 3, no. 2 (February 3, 2004): 183–95. http://dx.doi.org/10.1016/j.dnarep.2003.10.007.

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41

Nishigori, Chikako, Hiraku Takebe, and Sadao Imamura. "Repair characteristics of xeroderma pigmentosum (XP) group F cells after UV irradiation." Journal of Dermatological Science 1, no. 5 (September 1990): 403. http://dx.doi.org/10.1016/0923-1811(90)90740-5.

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Price, Vera H. "Trichothiodystrophy: Current Concepts." Journal of Cutaneous Medicine and Surgery 1, no. 1 (July 1996): 45–49. http://dx.doi.org/10.1177/120347549600100113.

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Background: Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder in which the hair identifies a group of genetic disorders with deficient high-sulfur matrix proteins, and a defect in excision repair of ultraviolet damage in fibroblasts of most patients. TTD patients may be grouped as follows: (1) the major group with defects in the excision repair cross-complementing gene ERCC2, the gene for xeroderma pigmentosum group D (XP-D); (2) those with defects in ERCC3, the gene for XP-B; and (3) those with a repair defect distinct from those in XP-D and XP-B. In contrast to XP patients, TTD patients have no increased frequency of skin cancers. Objective: The article explains the relationship of TTD and XP and helps clarify why TTD patients with defects in the same gene(s) as those with XP do not have increased skin cancers. Methods: Methods include biochemical studies, mutational analysis, and genomic sequence analysis of cell lines from skin biopsies of TTD and XP patients. Results: The ERCC2 gene is a component of the TFIIH complex which controls two distinct DNA-metabolizing processes, transcription initiation and nucleotide excision repair. Conclusion: In TTD, the major defect is in transcription initiation, whereas in XP-D, DNA repair is primarily altered.

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Armelini, Melissa G., Keronninn M. Lima-Bessa, Maria Carolina N. Marchetto, Alysson R. Muotri, Vanessa Chiganças, Ricardo A. Leite, Helotonio Carvalho, and Carlos F. M. Menck. "Exploring DNA damage responses in human cells with recombinant adenoviral vectors." Human & Experimental Toxicology 26, no. 11 (November 2007): 899–906. http://dx.doi.org/10.1177/0960327107083556.

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Recombinant adenoviral vectors provide efficient means for gene transduction in mammalian cells in vitro and in vivo. We are currently using these vectors to transduce DNA repair genes into repair deficient cells, derived from xeroderma pigmentosum (XP) patients. XP is an autosomal syndrome characterized by a high frequency of skin tumors, especially in areas exposed to sunlight, and, occasionally, developmental and neurological abnormalities. XP cells are deficient in nucleotide excision repair (affecting one of the seven known XP genes, xpa to xpg) or in DNA replication of DNA lesions (affecting DNA polymerase eta, xpv). The adenovirus approach allows the investigation of different consequences of DNA lesions in cell genomes. Adenoviral vectors carrying several xp and photolyases genes have been constructed and successfully tested in cell culture systems and in vivo directly in the skin of knockout model mice. This review summarizes these recent data and proposes the use of recombinant adenoviruses as tools to investigate the mechanisms that provide protection against DNA damage in human cells, as well as to better understand the higher predisposition of XP patients to cancer. Human & Experimental Toxicology (2007) 26, 899—906

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RapićOtrin, Vesna, Isao Kuraoka, Tiziana Nardo, Mary McLenigan, A. P. M. Eker, Miria Stefanini, Arthur S. Levine, and Richard D. Wood. "Relationship of the Xeroderma Pigmentosum Group E DNA Repair Defect to the Chromatin and DNA Binding Proteins UV-DDB and Replication Protein A." Molecular and Cellular Biology 18, no. 6 (June 1, 1998): 3182–90. http://dx.doi.org/10.1128/mcb.18.6.3182.

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ABSTRACT Cells from complementation groups A through G of the heritable sun-sensitive disorder xeroderma pigmentosum (XP) show defects in nucleotide excision repair of damaged DNA. Proteins representing groups A, B, C, D, F, and G are subunits of the core recognition and incision machinery of repair. XP group E (XP-E) is the mildest form of the disorder, and cells generally show about 50% of the normal repair level. We investigated two protein factors previously implicated in the XP-E defect, UV-damaged DNA binding protein (UV-DDB) and replication protein A (RPA). Three newly identified XP-E cell lines (XP23PV, XP25PV, and a line formerly classified as an XP variant) were defective in UV-DDB binding activity but had levels of RPA in the normal range. The XP-E cell extracts did not display a significant nucleotide excision repair defect in vitro, with either UV-irradiated DNA or a uniquely placed cisplatin lesion used as a substrate. Purified UV-DDB protein did not stimulate repair of naked DNA by DDB− XP-E cell extracts, but microinjection of the protein into DDB−XP-E cells could partially correct the repair defect. RPA stimulated repair in normal, XP-E, or complemented extracts from other XP groups, and so the effect of RPA was not specific for XP-E cell extracts. These data strengthen the connection between XP-E and UV-DDB. Coupled with previous results, the findings suggest that UV-DDB has a role in the repair of DNA in chromatin.

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Uribe-Bojanini, Esteban, Sara Hernandez-Quiceno, and Alicia María Cock-Rada. "Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation." Case Reports in Medicine 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/7162737.

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Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

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Krasikova, Yuliya, Nadejda Rechkunova, and Olga Lavrik. "Nucleotide Excision Repair: From Molecular Defects to Neurological Abnormalities." International Journal of Molecular Sciences 22, no. 12 (June 9, 2021): 6220. http://dx.doi.org/10.3390/ijms22126220.

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Nucleotide excision repair (NER) is the most versatile DNA repair pathway, which can remove diverse bulky DNA lesions destabilizing a DNA duplex. NER defects cause several autosomal recessive genetic disorders. Xeroderma pigmentosum (XP) is one of the NER-associated syndromes characterized by low efficiency of the removal of bulky DNA adducts generated by ultraviolet radiation. XP patients have extremely high ultraviolet-light sensitivity of sun-exposed tissues, often resulting in multiple skin and eye cancers. Some XP patients develop characteristic neurodegeneration that is believed to derive from their inability to repair neuronal DNA damaged by endogenous metabolites. A specific class of oxidatively induced DNA lesions, 8,5′-cyclopurine-2′-deoxynucleosides, is considered endogenous DNA lesions mainly responsible for neurological problems in XP. Growing evidence suggests that XP is accompanied by defective mitophagy, as in primary mitochondrial disorders. Moreover, NER pathway is absent in mitochondria, implying that the mitochondrial dysfunction is secondary to nuclear NER defects. In this review, we discuss the current understanding of the NER molecular mechanism and focuses on the NER linkage with the neurological degeneration in patients with XP. We also present recent research advances regarding NER involvement in oxidative DNA lesion repair. Finally, we highlight how mitochondrial dysfunction may be associated with XP.

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Ben Rekaya, Mariem, Manel Jerbi, Olfa Messaoud, Ahlem Sabrine Ben Brick, Mohamed Zghal, Chiraz Mbarek, Ashraf Chadli-Debbiche, et al. "Further Evidence of Mutational Heterogeneity of theXPCGene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations." BioMed Research International 2013 (2013): 1–7. http://dx.doi.org/10.1155/2013/316286.

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Xeroderma Pigmentosum(XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage toXPCgene, genotyping and direct sequencing ofXPCgene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in theXPCgene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of theXPCmRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

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Bernardes de Jesus, Bruno M., Magnar Bjørås, Frédéric Coin, and Jean Marc Egly. "Dissection of the Molecular Defects Caused by Pathogenic Mutations in the DNA Repair Factor XPC." Molecular and Cellular Biology 28, no. 23 (September 22, 2008): 7225–35. http://dx.doi.org/10.1128/mcb.00781-08.

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ABSTRACT XPC is responsible for DNA damage sensing in nucleotide excision repair (NER). Mutations in XPC lead to a defect in NER and to xeroderma pigmentosum (XP-C). Here, we analyzed the biochemical properties behind mutations found within three patients: one amino acid substitution (P334H, XP1MI, and GM02096), one amino acid incorporation in a conserved domain (697insVal, XP8BE, and GM02249), and a stop mutation (R579St, XP67TMA, and GM14867). Using these mutants, we demonstrated that HR23B stabilizes XPC on DNA and protects it from degradation. XPC recruits the transcription/repair factor TFIIH and stimulates its XPB ATPase activity to initiate damaged DNA opening. In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients.

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Venema, J., A. van Hoffen, V. Karcagi, A. T. Natarajan, A. A. van Zeeland, and L. H. Mullenders. "Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes." Molecular and Cellular Biology 11, no. 8 (August 1991): 4128–34. http://dx.doi.org/10.1128/mcb.11.8.4128.

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We have measured the removal of UV-induced pyrimidine dimers from DNA fragments of the adenosine deaminase (ADA) and dihydrofolate reductase (DHFR) genes in primary normal human and xeroderma pigmentosum complementation group C (XP-C) cells. Using strand-specific probes, we show that in normal cells, preferential repair of the 5' part of the ADA gene is due to the rapid and efficient repair of the transcribed strand. Within 8 h after irradiation with UV at 10 J m-2, 70% of the pyrimidine dimers in this strand are removed. The nontranscribed strand is repaired at a much slower rate, with 30% dimers removed after 8 h. Repair of the transcribed strand in XP-C cells occurs at a rate indistinguishable from that in normal cells, but the nontranscribed strand is not repaired significantly in these cells. Similar results were obtained for the DHFR gene. In the 3' part of the ADA gene, however, both normal and XP-C cells perform fast and efficient repair of either strand, which is likely to be caused by the presence of transcription units on both strands. The factor defective in XP-C cells is apparently involved in the processing of DNA damage in inactive parts of the genome, including nontranscribed strands of active genes. These findings have important implications for the understanding of the mechanism of UV-induced excision repair and mutagenesis in mammalian cells.

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Venema, J., A. van Hoffen, V. Karcagi, A. T. Natarajan, A. A. van Zeeland, and L. H. Mullenders. "Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes." Molecular and Cellular Biology 11, no. 8 (August 1991): 4128–34. http://dx.doi.org/10.1128/mcb.11.8.4128-4134.1991.

Full text

Abstract:

We have measured the removal of UV-induced pyrimidine dimers from DNA fragments of the adenosine deaminase (ADA) and dihydrofolate reductase (DHFR) genes in primary normal human and xeroderma pigmentosum complementation group C (XP-C) cells. Using strand-specific probes, we show that in normal cells, preferential repair of the 5' part of the ADA gene is due to the rapid and efficient repair of the transcribed strand. Within 8 h after irradiation with UV at 10 J m-2, 70% of the pyrimidine dimers in this strand are removed. The nontranscribed strand is repaired at a much slower rate, with 30% dimers removed after 8 h. Repair of the transcribed strand in XP-C cells occurs at a rate indistinguishable from that in normal cells, but the nontranscribed strand is not repaired significantly in these cells. Similar results were obtained for the DHFR gene. In the 3' part of the ADA gene, however, both normal and XP-C cells perform fast and efficient repair of either strand, which is likely to be caused by the presence of transcription units on both strands. The factor defective in XP-C cells is apparently involved in the processing of DNA damage in inactive parts of the genome, including nontranscribed strands of active genes. These findings have important implications for the understanding of the mechanism of UV-induced excision repair and mutagenesis in mammalian cells.

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Journal articles on the topic 'Xeroderma pigmentosum [XP]'

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