title: Chromosomal instability and cellular hypersensitivity to X-radiation of cultured fibroblasts derived from porokeratosis patients' skin.
abstract: Porokeratosis is a rare genetic skin disorder known to be associated with a propensity to develop skin cancer. To further elucidate the previously reported cytogenetic and cellular abnormalities, we studied karyotypic changes and the sensitivity to X-ray irradiation of cultured fibroblasts derived from skin lesions and normal-appearing skin of 3 patients with porokeratosis. Cultured fibroblasts from normal-appearing skin of 9 controls were similarly examined. Porokeratosis subjects had a greater number of cells with chromosomal abnormalities than controls. Two porokeratosis strains which were derived from the normal-appearing skin of a patient had a noticeable clone of abnormal cells. Porokeratosis fibroblasts were hypersensitive to the lethal effects of X-radiation. This hypersensitivity was common to both the lesion-derived strains and the ones derived from normal-appearing skin. The 2 strains with clonal abnormal cells were also similarly hypersensitive to X-radiation. These results suggest that chromosomal instability is strongly related to porokeratosis and that X-ray hypersensitivity is an inherent abnormality in cultured fibroblasts of porokeratosis patients.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Ishibashi
authors.forename: F
authors.initials: F
authors.lastname: Otsuka
mesh_terms: D002470:Cell Survival; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000528:radiation effects*; D004307:Dose-Response Relationship, Radiation; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007621:Karyotyping; D007642:Keratosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged