EB (epidermolysis bullosa)-House Austria: Pioneering work for the care of patients with rare diseases.
Journal
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
ISSN: 1610-0387
Titre abrégé: J Dtsch Dermatol Ges
Pays: Germany
ID NLM: 101164708
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
25
01
2020
accepted:
14
04
2020
pubmed:
11
8
2020
medline:
10
8
2021
entrez:
11
8
2020
Statut:
ppublish
Résumé
The care of patients with epidermolysis bullosa (EB) poses a major challenge due to the rarity, heterogeneity and complexity of the disease as well as the occurrence of numerous primary and secondary extracutaneous manifestations, causing a significant morbidity and mortality. Specialized treatment centers are essential for offering these patients adequate care, including individual, interdisciplinary coordinated treatments according to current medical standards, and access to innovative therapeutic options. Against this background, the EB House Austria was founded in 2005 and designated the first national center of expertise for genodermatoses with a focus on EB in 2017. In the same year, it became a member of the European Reference Network for Rare Skin Diseases (ERN Skin). The pillars of this institution (outpatient clinic, research unit, academy, clinical study center) interact closely with each other, with numerous national and international clinical and scientific partners, as well as with patients and their relatives via the DEBRA Austria patient group. The development of the EB House Austria as a reference center is characterized by a long-term pioneering work, which in turn could pave the way for the optimization of care for comparable diseases as well as general care structures.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1229-1235Informations de copyright
© 2020 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.
Références
Fine JD, Bruckner-Tuderman L, Eady RA et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70(6): 1103-26.
Laimer M, Prodinger C, Bauer JW. Hereditary epidermolysis bullosa. J Dtsch Dermatol Ges 2015; 13: 1125-33.
Fine JD, Hintner H (editors). Life with epidermolysis bullosa (EB): etiology, diagnosis, multidisciplinary care and therapy. Wien: Springer; 2008.
Has C, Bauer JW, Bodemer C et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; Feb 4. [Epub ahead of print].
Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 2009; 61: 367-84.
Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 2009; 61: 387.
Murrell D. Epidermolysis bullosa: part I - pathogenesis and clinical features. Dermatologic Clinics 2010; 28: 1.
Hintner H, Fritsch PO, Foidart JM et al. Expression of basement membrane zone antigens at the dermo-epibolic junction in organ cultures of human skin. J Invest Dermatol 1980; 74(4): 200-4.
Hintner H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 1982; 118(6): 375-84.
Hintner H, Stingl G, Schuler G et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in melanobullous disease. J Invest Dermatol 1981; 76: 113-8.
Pohla-Gubo G, Kraus L, Hintner H. Role of immunofluorescence microscopy in dermatology. G Ital Dermatol Venereol 2011; 146(2): 127-42.
Pohla-Gubo G. Cepeda-Valdes R, Hintner H. Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol Clin 2010; 28(2): 2-10.
Pohla-Gubo G, Hintner H. Epidermolysis bullosa care in Austria and the epidermolysis bullosa house Austria. Dermatol clin 2010; 28(2): 415-20.
EUCERD Recommendations on Quality Criteria for Centres of Expertise for RD in MS. Oct, 2011. Available from www.eucerd.eu [Last accessed December 14, 2019].
EUCERD Recommendations on European reference networks for RD. Jan. 2013. Available from www.eucerd.eu [Last accessed December 14, 2019].
EUCERD Recommendations on Core Indicators for RD National Plans/Strategies. Jun. 2013. Available from www.eucerd.eu [Last accessed December 14, 2019].
EUROPLAN Recommendations for the Development of National Plans for Rare Diseases. Guidance Document. Available from www.europlanproject.eu [Last accessed December 14, 2019].
Laimer M, Pohla-Gubo G, Diem A et al. Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network. Wien Klin Wochenschr 2017; 129: 1-7.
Laimer M, Prodinger C, Ahlgrimm-Siess V et al. Austrian and European initiatives in the field of rare diseases - perspectives for a “fringe group” of many million patients. J Dtsch Dermatol Ges 2015; 13(3): 261-4.
Pereira Gray DJ, Sidaway-Lee K, White E et al. Continuity of care with doctors-a matter of life and death? A systematic review of continuity of care and mortality. BMJ Open 2018; 8(6): e021161.
Lanschuetzer CM, Laimer M, Nischler E, Hintner H. Epidermolysis bullosa nevi. Dermatol Clin 2010; 28: 179-83.
Bauer JW, Schaeppi H, Kaserer C et al. Large melanocytic nevi in hereditary epidermolysis bullosa. J Am Acad Dermatol 2001; 44(4): 577-84.
EB-Handbuch. Available from https://www.eb-haus.org/eb-handbuch [Last accessed December 15, 2019].
EUCERD. Working document: Minimal Data Set for Rare Diseases Registries (January 2015). Available from http://www.eucerd.eu/wp-content/uploads//2015/03/WP8_Registries_MDS.pdf [Last accessed December 15, 2019].
Fuentes I, Guttmann-Gruber C, Ling Tay AS et al. Reduced microbial diversity is a feature of recessive dystrophic epidermolysis bullosa involved skin and wounds. J Invest Dermatol 2018; 138(11): 2492-5.
Kocher T, Wagner RN, Klausegger A et al. Improved double-nicking strategies for COL7A1-editing by homologous recombination. Mol Ther Nucleic Acids 2019; 18: 496-507.
Wally V, Bauer JW. MicroRNAs: one for all, all for one. Br J Dermatol 2019; 181(5): 890-1.
Sun Y, Woess K, Kienzl M et al. Extracellular vesicles as biomarkers for the detection of a tumor marker gene in epidermolysis bullosa-associated squamous cell carcinoma. J Invest Dermatol 2018; 138(5): 1197-200.
Klicznik MM, Benedetti A, Gail LM et al. A novel humanized mouse model to study the function of human cutaneous memory T cells in vivo in human skin. bioRxiv 490060; doi: https://doi.org/10.1101/490060.
Mavilio F, Pellegrini G, Ferrari S et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 2006; 12(12): 1397-402.
Bauer JW, Koller J, Murauer EM et al. Closure of a large chronic wound through transplantation of gene-corrected epidermal stem cells. J Invest Dermatol 2017; 137(3): 778-81.
De Rosa L, Carulli S, Cocchiarella F et al. Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa. Stem Cell Rep 2014; 2: 1-8.
Hirsch T, Rothoeft T, Teig N et al. Regeneration of the entire human epidermis using transgenic stem cells. Nature 2017; 551(7680): 327-32.
Wally V, Kitzmueller S, Lagler F et al. Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet J Rare Dis 2013; 8: 69.
Wally V, Hovnanian A, Ly J et al. Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. J Am Acad Dermatol 2018; 78(5): 892-901.
Guttmann-Gruber C, Tockner B, Scharler C et al. Low-dose calcipotriol can elicit wound closure, anti-microbial, and anti-neoplastic effects in epidermolysis bullosa keratinocytes. Sci Rep 2018; 8(1): 13430.