Kindler Syndrome in Two Indian Adults: Clinical and Molecular Characterization of FERMT1 Mutations

Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive genodermatosis historically classified under epidermolysis bullosa, though it exhibits distinct clinical and genetic characteristics. Over 70 mutations in the FERMT1 gene have been identified globally, including point mutations, insertions/deletions, and larger rearrangements. We report two Indian male patients (aged 30 and 31 years) born of consanguineous marriages presenting with hallmark features of KS including trauma-induced blistering, progressive poikiloderma, photosensitivity, mucosal involvement, and nail dystrophy. Genetic analysis via whole-exome sequencing (WES) identified homozygous pathogenic mutations in the FERMT1 gene in both cases. This case highlights the importance of molecular diagnostics in genodermatoses and contributes to the expanding mutational landscape of FERMT1 in South Asia.