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Bullöse Autoimmundermatosen der Schleimhaut
Autoimmune bullous diseases (AIBD) comprise a group of organ-specific autoimmune diseases which are characterised by the production of autoantibodies...
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Application of topical gentamicin—a new era in the treatment of genodermatosis
BackgroundThe clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic. However, in the past...
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Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues
Dystonin ( DST ), also known as bullous pemphigoid antigen 1 ( BPAG1 ), encodes cytoskeletal linker proteins belonging to the plakin family. The DST gene...
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Oleogel-S10 Phase 3 study “EASE” for epidermolysis bullosa: study design and rationale
BackgroundEpidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin....
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Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines
Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International...
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Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years’ experience of a reference centre in Spain
BackgroundCutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB)....
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Composite endpoints, including patient reported outcomes, in rare diseases
BackgroundWhen assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to...
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Development of the PROMIS pediatric stigma and extension to the PROMIS pediatric stigma: skin item banks
PurposeTo develop the PROMIS Pediatric Stigma (PPS) and Skin (PPS-Skin) by constructing a common metric for measuring stigma in children with various...
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Carer burden in rare inherited diseases: a literature review and conceptual model
BackgroundCarers of people living with rare diseases report heavy burden and a plethora of unmet needs. A previous parental supportive care needs...
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Management von bullösem Pemphigoid und Schleimhautpemphigoid
BackgroundBullous pemphigoid (BP) is the most common blistering autoimmune dermatosis and, as an age-associated disease, is also the bullous...
