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Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan
Author(s) -
YAMAMURA K.,
ICHIHASHI M.,
HIRAMOTO T.,
OGOSHI M.,
NISHIOKA K.,
FUJIWARA Y.
Publication year - 1989
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.1365-2133.1989.tb15514.x
Subject(s) - medicine , xeroderma pigmentosum , dermatology , library science , family medicine , biology , dna , genetics , dna damage , computer science
SUMMARY A 61‐year‐old female patient with xeroderma pigmentosum (XP), registered as XP46KO, was assigned to complementation group F by the cell fusion‐complementation method. The XP46KO fibroblasts in culture exhibited a defective DNA repair capacity of 10–15% unscheduled DNA synthesis and a 3‐fold sensitivity to the lethal effect of 254 nm ultraviolet light compared with normal cells. The patient had mild clinical symptoms consisting of numerous pigmented freckles and a small number of scborrheic keratosis‐like papules. She had no skin cancers in the sun‐exposed areas of the skin and so far no neurological abnormalities. A review of 11 Japanese group F patients revealed very mild skin symptoms with no ocular or neuro‐psychiatric abnormalities. Single skin cancers occurred in only 3 of the 11 patients with an average age of 52 years for their first skin malignancy.