[Xeroderma pigmentosum with normal excision-repair capacity and decreased U-V tolerance (author's transl)].
Unscheduled DNA synthesis was investigated in the peripheral lymphocytes of a 31-year-old woman suffering from Xeroderma pigmentosum, clinically manifest since early childhood. The present data indicate a normal level of excision repair capacity, though U-V sensitivity was increased. The present case is considered to be a new variant of the syndrome Xeroderma pigmentosum, demonstrating once more its genetic heterogeneity. The question of a relationship between the observed data and the known occurrence of carcinoma in the light-exposed skin areas remains to be answered.
D000328:Adult; D004247:DNA / Q000096:biosynthesis; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D010787:Photosensitivity Disorders / Q000209:etiology* / Q000378:metabolism; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000378:metabolism
D004247:DNA
Xeroderma Pigmentosum mit intaktem Exzisionsrepair-Mechanismus und herabgesetzter UV-Toleranz