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The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly

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eMediNexus Editorial    08 January 2022

Ultraviolet-sensitive syndrome, a rare- usually autosomal recessive skin disorder, has a heterogeneous phenotypic range of skin freckling, telangiectasia and acute sunburn. Literature reports only 18 patients from nine different families from Japan, France, Israel, Iran and Pakistan. 

The exact prevalence is still unknown, but the estimated prevalence ratio is 1:100,000 globally. Only three genes have been reported to date, associated with this syndrome, i.e. the Excision Repair Cross-Complementing, Group 6, the Excision Repair Cross-Complementing, Group 8 and the UV-Stimulated Scaffold Protein A (UVSSA). UVSSA is reportedly more prevalent among different ethnicities, like Pakistani. The majority of the genes, physiologically, observe the transcription-coupled nucleotide excision pathway. 

Patients can diminish the disease severity by using medicated skin moisturisers or sun-blocks, sunglasses and gloves to avoid sun exposure while going out in the sun. 

Source- Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan, Ahmad S, Abbasi AA, Khan S, Khan MA. The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. PMID: 34974577.

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