Epidermolysis bullosa House Austria as a role model for the care of a rare disease

Abstract

The evolution of the Epidermolysis bullosa (EB) House Austria in Salzburg has demonstrated from its beginning in 2005 in an exceptional way the establishment of an optimized health care for a hitherto neglected group of patients, suffering from a rare but devastating skin disease: Epidermolysis bullosa. Patients with this hereditary mechanobullous skin disease, characterized by a heterogenous clinical course, multisystemic manifestations and increased morbidity and mortality, find in the EB House Austria a multidisciplinary, medical and psychosocial, family-centered support, optimally customized to this condition and individualized to each patient. Its unique structure of four divisions (Outpatient Unit, Research Laboratory, Academy, Clinical Research and Study Center) has set the basis for the delivery of best medical practice and state-of-the-art care as well as the establishment/ performance of high quality and patient centered research and translational medicine. Initially the (ongoing) close collaboration with the powerful patient group and medical research charity “DEBRA Austria” that is dedicated to a multidimensional support of EB patients and their relatives living in Austria and neighboring countries, has enabled the construction of the EB House Austria. The acknowledgement of this institution as a successful model has been officially obtained in 2017 by its designation as a national Center of Expertise for Genodermatoses with special focus on EB and its inclusion into the European Reference Network (ERN) for Rare Skin Disorders in September 2018. Therefore, the history of the EB house is worth reviewing since it can be regarded as a role model for the care of other rare and multisystemic diseases.

Keywords

• epidermolysis bullosa
• rare disease
• genodermatoses
• debra
• multidisciplinary support