The Epidermolysis bullosa Center Freiburg – patient care, diagnostics and research
© Bruckner-Tuderman and Kirstein; licensee BioMed Central Ltd. 2014
Published: 11 November 2014
The EB Center Freiburg performs molecular diagnostics, coordinates multidisciplinary care for patients and their families, advices general practitioners, medical specialists, nursing staff and therapists, and disseminates information to lay public and media. The office of the Center is available for enquiries for 24 hours and responds within 24 hours. The team includes a coordinator, physicians, nurses, a social worker, a documentary clerk, scientists and laboratory technicians with expertise in EB. The consultations are usually out-patient or day clinic appointments, but hospital admission is possible for severe cases requiring extensive medical treatments. Standardized clinical practice with a diagnostic algorithm and standardized patient documentation facilitates diagnostic processes, and a weekly EB-expert meeting evaluates all diagnoses as a quality assurance measure. Currently the EB-patient registry contains data of >1000 patients with molecular genetic diagnosis and has an associated biomaterial collection of skin biopsies, cells and blood samples. These serve as basis for research on epidemiology of EB and for clinical and laboratory investigations on novel causes, disease mechanisms, genotype-phenotype correlations and treatments for EB. - In addition to numerous international research collaborations, the EB Center is actively involved in larger structures for rare diseases. The Freiburg Center for Rare Diseases [http://www.uniklinik-freiburg.de/fzse.html] provides high-level scientific expertise, innovative diagnostics and interdisciplinary care for people with rare disorders of the skin, the musculoskeletal system, the kidney, the lung, the eye, the blood and the immune systems. Internationally, EB-CliNet [http://www.eb-clinet.org], a European network of EB Centers, and the Genodermatoses Network, an international network on rare skin diseases for professionals and patients [http://www.genodermatoses-network.org] aim at establishing a European Reference Network for genetic skin diseases.
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