19 KB122 KB18 KB199220252005Angelova, IrenaDourmishev, A.L.Kazandjieva, JanaVassileva, Snejinaletnik:14številka:2str. 61-67ISSN:1318-4458COBISSID:19575001URN:URN:NBN:SI:doc-LAQB9XHEenSlovene Welding SocietyActa dermatovenerologica Alpina, Pannonica et AdriaticadermatologijafotosenzibilnostFotosenzibilnost, motnjegenetske bolezniMiddle AgePhotosensitivity DisordersPoikiloderma CongenitalePoikilodermija prirojenaSrednja letaKindler syndrome| a case report and proposal for clinical diagnostic criteria|Kindler syndrome is a rare hereditary disorder characterized by acral blister formation in infancy and childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. Since itwas first described in 1954, less than 100 cases have been reported worldwide. Recently it has been reported that Kindler syndrome is the first genodermatosis caused by a defect in the actin-extracellular matrix linkage, and the gene was mapped to chromosome 20p12.3. The clinical features of the syndrome have been annotated by different authors but the definite of criteria to confirm the diagnosis have not yet been generally accepted. We report a case of Kindler syndrome that presents a full spectrum of clinical manifestations, and we propose a setof clinical criteria for diagnosisTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaZdruženje slovenskih dermatovenerologov