Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient

Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder. In this report we have investigated an Italian child affected with recessive D EB (RDEB) and demonstrated that he was homozygous for the mutation R226X in the type VII collagen gene (COL7A1), leading to absence of type VIT collag en at the dermal-epidermal junction. There was no family history of inherit ed skin blistering but the child's father was affected by Marfan syndrome, an autosomal dominant connective tissue disorder that results from mutation s in the fibrillin-1 gene (FBN1). Analysis of this gene showed that the RDE B patient and his father were both heterozygous for a novel FBN1 mutation, C1971Y. This mutation affects one of the six obligate cysteine residues wit hin one of the calcium-binding epidermal growth factor-like regions of the protein. At the age of 2-years the RDEB patient showed signs of early aorti c dilatation, suggesting that he is likely to develop a Marfan syndrome phe notype in the future. This is a unique case of these two coexisting inherit ed disorders.