A Report And Review Of The Recurrent C811ct Variant And Mutation Spectrum Of Kindler Syndrome In East Asians A Diagnostic Odyssey Of 2 Weeks Versus 49 Years

Download or read book A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years written by Annie Tsz Wai Chu and published by OAE Publishing Inc.. This book was released on 2023-03-03 with total page 10 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kindler Syndrome (KS) is one of the rarest subtypes of epidermolysis bullosa (EB). It is characterised by congenital blistering, skin fragility, photosensitivity, and poikilodermatous skin changes. It is an autosomal recessive condition with an established disease-causing mechanism of having biallelic pathogenic variants in the FERMT1 gene. Multiple variants have been reported worldwide since the discovery in 1954. This case report describes two patients of Chinese descent with molecularly confirmed KS, one diagnosed in infancy while the other in mid-adulthood. It highlights the importance and clinical utility of diagnosing KS in children versus adults. The identification of recurrent c.811C>T variant in both patients also expedited the review of local databases and the existing mutation spectrum KS in East Asians.