The molecular genetics of UV-Sensitive syndrome; a rare dermal anomaly

Abstract

UV-Sensitive syndrome (UVSS) is a rare skin disorder that is characterized by heterogeneous phenotypic spectrum of skin freckling, telangiectasia and acute sunburn. UV-Sensitive syndrome (UVSS) usually inherit in autosomal recessive pattern. So far, only 18 patients from nine different families (i.e. Japanese, French, Israeli, Iranian and Pakistani) have been reported in the scientific literature. Its precise prevalence is still unknown, but according to an estimation, it prevails with the ratio of 1:100,000 worldwide. Until now, only three genes have been reported to be involved in UV-Sensitive syndrome, including ERCC6, ERCC8 and UVSSA. Among these genes, UVSSA is reported to be more prevalent among different ethnicities, including Pakistan as well. Physiologically, UV-Sensitive syndrome genes are involved in transcription-coupled nucleotide excision pathway. In order to reduce the disease severity, Continuous..