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A young woman with xeroderma pigmentosum complementation group F and a morphoeic basal cell carcinoma
Author(s) -
ITOH T.,
WATANABE H.,
YAMAIZUMI M.,
ONO T.
Publication year - 1995
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1995.tb08637.x
Subject(s) - xeroderma pigmentosum , complementation , photodermatosis , basal cell carcinoma , photosensitivity , basal cell , microbiology and biotechnology , biology , medicine , cancer research , dna repair , dna , genetics , gene , pathology , phenotype , physics , quantum mechanics
Summary We report an 18‐year‐old Japanese woman who had mild photosensitivity and a facial tumour, which was shown to be a morphoeic basal cell carcinoma. Although a line of fibroblasts derived from the patient, Kps6 cells, were slightly more sensitive to UV irradiation than normal cells, their level of unscheduled DNA synthesis was about 20% that of normal cells, and recovery of RNA synthesis after UV irradiation was moderately depressed. Complementation tests, carried out by cell fusion or by microinjection of plasmids harbouring xeroderma pigmenlosum (XP) genes, indicated that the patient had XP group F. To our knowledge, this is the youngest XP group F patient with a malignant tumour reported to date.