Abstract
Plain Language SummaryThis study looks at the prevalence and impact of IL36RN gene mutations in patients with generalized pustular psoriasis (GPP) in Can Tho City, Vietnam. GPP is a severe and rare type of psoriasis that leads to widespread pustules and severe inflammation. Understanding the genetic basis of GPP, especially mutations in the IL36RN gene, is important for improving treatment options. The research involved 59 patients diagnosed with GPP using criteria from the European Rare and Severe Psoriasis Expert Network and the Japanese Dermatological Association. The study gathered information about the patients’ demographics, clinical features, and laboratory results, and genetic testing was carried out to find mutations in the IL36RN gene. The findings show a high prevalence of IL36RN mutations, with 44.1% of patients having the p.Arg10ArgfsX1 mutation. Other mutations found were p.Pro76Leu and p.Arg102Trp. Patients with IL36RN mutations were generally younger and developed GPP earlier. There were also significant associations between these mutations and certain clinical features, such as fever and geographic tongue, suggesting that these genetic changes play a strong role in these symptoms.
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