Dystrophic epidermolysis bullosa (EBD) is a rare inherited disease characterized by blistering lesions and ulcerations of the skin and mucous membranes that are resolved with healing dystrophic processes.
The EBD segregates in an autosomal, dominant or recessive.
The dominant forms are generally mild, while the recessive forms have clinical pictures ranging from mild to very severe.
The purpose of questions to work was the search for mutations in COL7A1 in Italian patients with EBD, and for the molecular characterization of patients and confirmation of the diagnosis of EBD, both for the study of the biological effect of these mutations in order to clarify the correlation between genotype and phenotype in this condition.
In 9 patients analyzed were detected 10 different mutations, including 7 never described above.