Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care
| Autor: | Seiji Takeuchi, Mariko Tsujimoto, Ryusuke Ono, Takehiro Ueda, Eiji Nakano, Taro Masaki, Chikako Nishigori |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
DNA Replication medicine.medical_specialty Xeroderma pigmentosum Skin Neoplasms DNA Repair Genotype Disease Biochemistry Patient care 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Japan Surveys and Questionnaires medicine Humans In patient Basal cell carcinoma Physical and Theoretical Chemistry Age of Onset skin and connective tissue diseases Xeroderma Pigmentosum integumentary system business.industry Melanoma Cancer General Medicine medicine.disease Dermatology 030104 developmental biology Phenotype Age of onset business Sunscreening Agents |
| Zdroj: | Photochemistry and photobiology. 95(1) |
| ISSN: | 1751-1097 |
| Popis: | Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease caused by deficiency in repair of DNA lesions generated by ultraviolet radiation and other compounds. Patients with XP display pigmentary change and numerous skin cancers in sun-exposed sites, and some patients show exaggerated severe sunburns even upon minimum sun exposure as well as neurological symptoms. We conducted a nationwide survey for XP since 1980. In Japan, the frequency of the XP complementation group A is the highest, followed by the variant type; while in the Western countries, those of groups C or D are the highest. Regarding skin cancers in XP, basal cell carcinoma was the most frequent cancer that afflicted patients with XP, followed by squamous cell carcinoma, and malignant melanoma. The frequency of these skin cancers in patients with XP has decreased in these 20 years, and the age of onset of developing skin cancers is higher than those previously observed, owing to early diagnosis and education to patients and care takers on strict prevention from sunlight for patients with XP. On the other hand, the effective therapy for neurological XP has not been established yet, and this needs to be done urgently. |
| Databáze: | OpenAIRE |
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