Cockayne syndrome in two adult siblings
| Autor: | Hae Ryong Chang, Hiroko Miyauchi, Takeshi Horio, Yasuo Asada, Kanji Ishizaki, Mituo Ikenaga, Tamiyo Akaeda |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Adult
Male medicine.medical_specialty Erythema Cell Survival Ultraviolet Rays Eye disease Dermatology Cockayne syndrome Group B chemistry.chemical_compound Internal medicine medicine Humans Photosensitivity Disorders Sibling Cockayne Syndrome Cells Cultured Genetics integumentary system business.industry Genetic Complementation Test DNA Fibroblasts Middle Aged medicine.disease Complementation Endocrinology chemistry Phototesting medicine.symptom business |
| Zdroj: | Journal of the American Academy of Dermatology. 30(2 Pt 2) |
| ISSN: | 0190-9622 |
| Popis: | Although survival beyond the second decade is unusual in patients who have Cockayne syndrome, we describe two brothers with the syndrome who are 42 and 55 years of age. Their cultured skin fibroblasts showed extreme UV sensitivity but had almost normal UV-induced unscheduled DNA synthesis. The patients were classified as genetic complementation group B after study of the recovery of RNA synthesis after UV irradiation of fused cells. Clinical phototesting revealed a reduced threshold for UVB erythema. |
| Databáze: | OpenAIRE |
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