title: Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan.
abstract: 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 seborrheic 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.
authors.affiliation: Department of Dermatology, Kobe University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamamura
authors.forename: M
authors.initials: M
authors.lastname: Ichihashi
authors.forename: T
authors.initials: T
authors.lastname: Hiramoto
authors.forename: M
authors.initials: M
authors.lastname: Ogoshi
authors.forename: K
authors.initials: K
authors.lastname: Nishioka
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiwara
mesh_terms: D004247:DNA / Q000096:biosynthesis / Q000528:radiation effects; D004260:DNA Repair / Q000528:radiation effects; D005260:Female; D005347:Fibroblasts / Q000528:radiation effects; D005816:Genetic Complementation Test; D006801:Humans; D008875:Middle Aged; D012871:Skin Diseases / Q000235:genetics*; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000235:genetics*
chemical_list: D004247:DNA