Dystrophic epidermolysis bullosa: two case reports

We identified the mutations in two patients with different phenotypes of dystrophic epidermolysis bullosa (DEB). We performed molecular diagnosis to a patient aged 45 years who showed the typical severe generalized autosomal recessive DEB signs when admitted to the hospital. The other patient is a 4-month-old boy who showed a moderate clinical aspect of DEB, dominated by nail dystrophy. The molecular diagnosis disclosed in the first patient the presence of a heterozygous mutation consisting of a nucleotide substitution that lead to a splice site mutation, namely 425-2 A>G, associated to a premature termination codon, in exon 5, namely c.553 C>T, p.R185X and in the second patient a heterozygous substitution at nucleotide position 6100 that converts a glycine amino acid to arginine (6100G>A). The mutation is designated G2034R. We conclude that molecular diagnosis is the conclusive EBD investigation, maps the phenotype of a patient with his genotype and thus allows a better understanding of the disease mechanism and the development of gene therapy. Molecular diagnosis also enables genetic counseling and prenatal diagnosis.