title: Pigmented Xerodermoid: first report of a family.
abstract: Pigmented Xerodermoid is a variant of Xeroderma pigmentosum characterized by late manifestation of sun--sensitivity, dyschromic and poikilodermatic skin changes and multiple malignant skin tumors in light exposed areas. In contrast to Xeroderma pigmentosum excision repair system is normal, but DNA synthesis after UV--irradiation is markedly prolonged, suggesting that the postreplicational repair mechanism is disturbed. A family of 89 members with 4 siblings suffering from pigmented Xerodermoid was examined. The pedigree of this family suggests autosomal recessive inheritance in this disease.
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004260:DNA Repair / Q000528:radiation effects; D004261:DNA Replication / Q000528:radiation effects; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000145:classification / Q000235:genetics*