Supplementary file: Clinical and Molecular Spectrum of Inherited Epidermolysis Bullosa in a Thai Cohort: A 12-Year Retrospective Study

This dataset provides a detailed clinical and genetic characterization of inherited epidermolysis bullosa (EB) within a Thai patient cohort. The supplementary material includes high-resolution photography documenting a wide spectrum of phenotypic presentations, ranging from characteristic blistering and scarring in dominant dystrophic EB (DDEB) to severe mitten deformities in recessive dystrophic EB (RDEB). It further illustrates specific manifestations such as pruritic plaques in EB pruriginosa, perioral crusting in junctional EB (JEB) linked to LAMB3 mutations, localized pressure-induced blisters in EB simplex (EBS), and the poikiloderma seen in Kindler syndrome. Additionally, the data captures specialized clinical findings including vertex and occipital alopecia in patients with ITGB4 variants, subungual hyperkeratosis, and mottled post-inflammatory hyperpigmentation of the trunk and limbs associated with KRT14 variants. Accompanying these visual records is a comprehensive genotype-phenotype ledger (Supplementary Table 1) that catalogs pathogenic and likely pathogenic variants across several key genes, including COL7A1, FERMT1, ITGB4, LAMB3, KRT5, and KRT14. This table details cDNA variants, protein changes, inheritance patterns, and ACMG pathogenicity classifications, supported by computational prediction scores from MutationTaster, SIFT, PolyPhen-2, CADD, and DANN. Notably, the dataset identifies and describes several novel variants, indicated by a dagger (†) symbol, contributing new insights into the molecular diversity of EB.