Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches
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 developm...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2021-12-01
|
| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2798 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850023757629882368 |
|---|---|
| author | Tatyana S. Belysheva Tatyana V. Nasedkina Iryna S. Kletskaya Anastasiya S. Volkova Vera V. Semenova Timur T. Valiev |
| author_facet | Tatyana S. Belysheva Tatyana V. Nasedkina Iryna S. Kletskaya Anastasiya S. Volkova Vera V. Semenova Timur T. Valiev |
| author_sort | Tatyana S. Belysheva |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-eca47751e5434916bd63aff1220d63c3 |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2021-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-eca47751e5434916bd63aff1220d63c32025-08-20T03:01:17Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352021-12-01206s61161710.15690/vsp.v20i6S.23702002Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic ApproachesTatyana S. Belysheva0Tatyana V. Nasedkina1Iryna S. Kletskaya2Anastasiya S. Volkova3Vera V. Semenova4Timur T. Valiev5National Medical Research Center of Oncology named after N.N. BlokhinEngelhardt Institute of Molecular BiologyRussian Children’s Clinical Hospital, Pirogov Russian National Research Medical UniversityNational Medical Research Center of Oncology named after N.N. BlokhinNational 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 RogachevNational Medical Research Center of Oncology named after N.N. BlokhinXeroderma 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.https://vsp.spr-journal.ru/jour/article/view/2798xeroderma pigmentosumoncodermatosisgenetic anomalieschildren |
| spellingShingle | Tatyana S. Belysheva Tatyana V. Nasedkina Iryna S. Kletskaya Anastasiya S. Volkova Vera V. Semenova Timur T. Valiev Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches Вопросы современной педиатрии xeroderma pigmentosum oncodermatosis genetic anomalies children |
| title | Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches |
| title_full | Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches |
| title_fullStr | Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches |
| title_full_unstemmed | Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches |
| title_short | Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches |
| title_sort | xeroderma pigmentosum clinical and genetic features and therapeutic approaches |
| topic | xeroderma pigmentosum oncodermatosis genetic anomalies children |
| url | https://vsp.spr-journal.ru/jour/article/view/2798 |
| work_keys_str_mv | AT tatyanasbelysheva xerodermapigmentosumclinicalandgeneticfeaturesandtherapeuticapproaches AT tatyanavnasedkina xerodermapigmentosumclinicalandgeneticfeaturesandtherapeuticapproaches AT irynaskletskaya xerodermapigmentosumclinicalandgeneticfeaturesandtherapeuticapproaches AT anastasiyasvolkova xerodermapigmentosumclinicalandgeneticfeaturesandtherapeuticapproaches AT veravsemenova xerodermapigmentosumclinicalandgeneticfeaturesandtherapeuticapproaches AT timurtvaliev xerodermapigmentosumclinicalandgeneticfeaturesandtherapeuticapproaches |