Xeroderma pigmentosum--biochemical and therapeutic aspects. Case report.
Four patients with Xeroderma pigmentosum are reported: 2 diagnosed following the development of multiple cutaneous tumours, and 2 at an earlier state. The repair synthesis of DNA after ultraviolet radiation was reduced in 3 and normal in 1 patients. Para-aminobenzoic acid (PABA) was used topically as sunscreen; for those intolerant to PABA, alternatives are given. 5-fluoro-uracil had satisfactory effect against actinic keratoses. Two patients had associated neurologic and mental abnormalities compatible with deSanctis-Cacchione syndrome, a Xeroderma pigmentosum variant.
D010129:4-Aminobenzoic Acid / Q000008:administration & dosage / Q000627:therapeutic use*; D000287:Administration, Topical; D000328:Adult; D062365:Aminobenzoates / Q000627:therapeutic use*; D002648:Child; D004260:DNA Repair / Q000528:radiation effects; D005260:Female; D005472:Fluorouracil / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders; D013473:Sunscreening Agents / Q000627:therapeutic use*; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000188:drug therapy / Q000378:metabolism
D062365:Aminobenzoates; D013473:Sunscreening Agents; D010129:4-Aminobenzoic Acid; D005472:Fluorouracil