It is striking to note that in contrast to two cases with severe (generalized) RDEB previously reported with a mutation in the COL7A1 promoter region [2, 5], the phenotype of patients 1, 3, and 4.1 is only moderate despite barely detectable C7 protein (Immunofluorescence staining and/or western blot) and COL7A1 mRNA transcripts. Here, COL7A1 is linked to recessive dystrophic epidermolysis bullosa.