The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin and mucous membranes. The ultrastructural hallmark of DEB is abnormalities in the anchoring fibrils. A recessively inherited variant, the mitis type of DEB (M-RDEB), is characterized by a mild phenotype, including the absence of mutilating scarring of the hands and feet. In this study, we demonstrate that M-RDEB results from the combination of a premature termination codon mutation in one COL7A1 allele, while other mutation consists of different types of genetic lesions. These results define M-RDEB as a distinct clinical entity at the molecular level.