We report two cases of dystrophic epidermolysis bullosa (pretibial) that presented nodules, erosions, and scars on the extensor surfaces of bilateral lower legs. Both patients presented the same clinical subtype (pretibial), but the results of a gene analysis were quite different. A direct sequencing analysis demonstrated a heterozygous c.6900+1G>A mutation in intron87 in Patient 1, and a homozygous c.8569G>T (E2857X) mutation in exon116 in Patient 2. These cases revealed that the same genotype does not necessarily specify the same phonotype in cases of dystrophic epidermolysis bullosa. Although the phenotypic diagnoses, i.e., pretibial and pruriginosa, are subjective, it is still valid to the base the diagnosis on the phenotype.