EB Classification
Classification of inherited Epidermolysis Bullosa
Report of the Third International Consensus Meeting on Diagnosis and Classification of EB, published with the kind permission of the Journal of the American Academy of Dermatology.
The Classification of inherited EB
International Dystrophic Epidermolysis Bullosa Patient Registry
DEB Patient Registry - COL7A1 mutation database
Recently, we have launched the International Dystrophic Epidermolysis Bullosa Patient Registry. This registry brings together all available information on DEB patients in an organized manner in one place and gives immediate insight into all information that is known about DEB and COL7A1 mutations. We are currently entering all anonymised information on DEB patients that have appeared in medical publications. The information that is extracted from the publications includes: the precise diagosis, results from DNA analysis of the COL7A1 gene, studies on skin biopsies and detailed information of clinical features (if available from the publication). All this information can be simply searched by anyone working on or interested in DEB and COL7A1 for free. This should help dermatologists to make quicker and more accurate diagnoses and make better predictions about future disease course in DEB patients, and help genetic counsellors and researchers.
The registry was built by the University Medical Center Groningen, the Netherlands, in close collaboration with the EB centres in Freiburg, Germany, in Salzburg, Austria, in Rome, Italy, and London, UK. To make the registry of even greater help to clinicians and genetic counsellors, we also wish to include information on patients that have not (yet) appeared in medical publications (of course only after the patient has signed an informed consent form). Therefore, we would like to collaborate with every EB centre in the world and invite them to submit their data. If you, as a clinician, would like to participate, please contact the curator. If you, as a DEB patient, wish your information to be included, please contact your doctor and ask to submit your data (all infomation is included anonymously).
We hope that this registry can be of great help to anyone involved in DEB.
