Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering disorder caused by mutations in the COL7A1 gene that lead to reduced type-VII collagen and defective anchoring fibrils at the dermal-epidermal junction (DEJ). Presently there are no effective treatments for this disorder. Recent mouse studies have shown that intradermal injections of normal human fibroblasts...

Revertant mosaicism (RM) is a phenomenon in which germline mutations are spontaneously corrected tissues. RM skin often observed genodermatoses, including epidermolysis bullosa (EB). However, the rigorous validation of has been technically challenging, especially when homologous recombination (HR) causes RM. Recently developed nanopore Cas9-targeted sequencing (nCATS) enables enrichment and spe...

Epidermolysis Bullosa is a clinically and genetically heterogeneous rare blistering skin disorder. The most severe variant, Recessive Dystrophic (RDEB), caused by loss-of-function mutations in the type VII collagen gene (COL7A1). COL7A1 c.6527insC mutation RDEB individuals curiously prevalent carries unique genetic history. In this study, approximately 100 patients with founder from Spain, Fran...

Dear Editors, Dominant dystrophic epidermolysis bullosa (DDEB) is a rare inherited blistering disorder resulting from mutations in the COL7A1 gene. This gene encodes type VII collagen, a major component of anchoring fibrils, at the dermal–epidermal junction. Its clinical features include recurrent blisters that primarily occur on the extremities as well as nail dystrophy. Here, we report a case...

Advanced glycation end products (AGEs) accumulate in the aging skin. To understand the biological effects of individual AGEs, skin reconstructed with collagen selectively enriched with N(ɛ)-(carboxymethyl)-lysine (CML), N(ɛ)-(carboxyethyl)-lysine (CEL), methylglyoxal hydroimidazolone (MG-H1), or pentosidine was studied. Immunohistochemistry revealed increased expression of α6 integrin at the de...

Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disorder characterized by traumainduced blistering. It is caused by mutations in the collagen VII gene, COL7A1, which consists of 118 small exons. Molecular diagnostics in DEB remain complex due to the gene structure, large variety of mutations, high rate of novel mutations, and the heterogeneity of phenotypes. Using a highly sensitive...

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutations in COL7A1 encoding type VII collagen (C7), the major component of anchoring fibrils. In this study, we report two cases RDEB patients with new pathogenic deep-intronic point COL7A1. Patient 1 45-year-old man inversa from unrelated healthy parents, for whom sequencing genomic DNA and...

Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Thera...