Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches
Tatyana S. Belysheva,
Tatyana V. Nasedkina,
Iryna S. Kletskaya,
Anastasiya S. Volkova,
Vera V. Semenova,
Timur T. Valiev https://doi.org/10.15690/vsp.v20i6S.2370
Abstract
Xeroderma pigmentosum is rare genetic disorder characterized by increased skin sensitivity to damaging ultraviolet (UV) light. First symptoms manifest at early age in most cases (up to 75%). Chronic damage due to sun exposure is common, it has different stages of changes and risk of further development of malignant tumors that depends on the gene involved. Additionally to skin manifestations there are various neurological disorders such as progressive cognitive dysfunctions, sensorineural hearing loss, ataxia, pyramid and extrapyramidal disorders, areflexia. Treatment of patients with xeroderma pigmentosum is mostly symptomatic and preventive (protection against UV). Nowadays targeted medications for DNA repair and increasing cells resistance to UV light, thus preventing the oncological diseases, are under development.
Supporting agencies: The study was carried out within the research work “Optimization of the diagnosis and treatment strategy for children with skin tumors”, government contract № 056-00112-21-00.
About the Authors
Tatyana S. Belysheva
National Medical Research Center of Oncology named after N.N. Blokhin
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
Tatyana V. Nasedkina
Engelhardt Institute of Molecular Biology
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
Iryna S. Kletskaya
Russian Children’s Clinical Hospital, Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
Anastasiya S. Volkova
National Medical Research Center of Oncology named after N.N. Blokhin
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
Vera V. Semenova
National Medical Research Center of Oncology named after N.N. Blokhin;
Engelhardt Institute of Molecular Biology;
Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
Timur T. Valiev
National Medical Research Center of Oncology named after N.N. Blokhin
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared.
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For citations:
Belysheva T.S., Nasedkina T.V., Kletskaya I.S., Volkova A.S., Semenova V.V., Valiev T.T. Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches. Current Pediatrics. 2021;20(6s):611-617. (In Russ.) https://doi.org/10.15690/vsp.v20i6S.2370
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