C Has1, J W Bauer2, C Bodemer3, M C Bolling4, L Bruckner-Tuderman1, A Diem2, J-D Fine5, A Heagerty6, A Hovnanian7, M P Marinkovich8, A E Martinez9, J A McGrath10, C Moss11, D F Murrell12, F Palisson13, A Schwieger-Briel14, E Sprecher15, K Tamai16, J Uitto17, D T Woodley18, G Zambruno19, J E Mellerio10. 1. Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. 2. Department of Dermatology and Allergology and EB Haus Austria University Hospital of the Paracelsus Medical University Salzburg, Austria. 3. Department of Dermatology, Necker Hospital des Enfants Malades, University Paris-Centre APHP 5, Paris, France. 4. University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. 5. Vanderbilt University School of Medicine, Nashville, TN, USA; National Epidermolysis Bullosa Registry, Nashville, TN, USA. 6. Heart of England Foundation Trust, Birmingham, UK. 7. INSERM UMR1163, Imagine Institute, Department of Genetics, Necker hospital for sick children, Paris University, Paris, France. 8. Stanford University School of Medicine, Stanford, Palo Alto Veterans Affairs Medical Center CA, USA. 9. Dermatology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK. 10. St John's Institute of Dermatology, King's College London and Guy's and St Thomas' NHS Foundation Trust, London, UK. 11. Birmingham Children's Hospital and University of Birmingham, UK. 12. St George Hospital and University of New South Wales, Sydney, Australia. 13. DEBRA Chile, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile. 14. Department of Pediatric Dermatology, University Children's Hospital Zürich, Zürich, Switzerland. 15. Division of Dermatology, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 16. Dermatology Department, University of Osaka, Osaka, Japan. 17. Thomas Jefferson University, Philadelphia, PA, USA. 18. University of Southern California, Los Angeles, CA, USA. 19. Dermatology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Abstract
BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB). OBJECTIVES: We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data. METHODS: This was a consensus expert review. RESULTS: In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin cleavage is very superficial, are classified as separate categories. These include peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility. Because of the common manifestation of skin fragility, these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. CONCLUSIONS: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. What is already known about this topic? Epidermolysis bullosa (EB) is a group of genetic disorders with skin blistering. The last updated recommendations on diagnosis and classification were published in 2014. What does this study add? We introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors and natural history of EB are reviewed. Other disorders with skin fragility, e.g. peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility are classified as separate categories; these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. Linked Comment: Pope. Br J Dermatol 2020; 183:603.
BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB). OBJECTIVES: We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data. METHODS: This was a consensus expert review. RESULTS: In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin cleavage is very superficial, are classified as separate categories. These include peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility. Because of the common manifestation of skin fragility, these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. CONCLUSIONS: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. What is already known about this topic? Epidermolysis bullosa (EB) is a group of genetic disorders with skin blistering. The last updated recommendations on diagnosis and classification were published in 2014. What does this study add? We introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors and natural history of EB are reviewed. Other disorders with skin fragility, e.g. peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility are classified as separate categories; these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. Linked Comment: Pope. Br J Dermatol 2020; 183:603.
Authors: Jose Bonafont; Angeles Mencía; Esteban Chacón-Solano; Wai Srifa; Sriram Vaidyanathan; Rosa Romano; Marta Garcia; Rosario Hervás-Salcedo; Laura Ugalde; Blanca Duarte; Matthew H Porteus; Marcela Del Rio; Fernando Larcher; Rodolfo Murillas Journal: Mol Ther Date: 2021-02-18 Impact factor: 12.910
Authors: Susanne Krämer; James Lucas; Francisca Gamboa; Miguel Peñarrocha Diago; David Peñarrocha Oltra; Marcelo Guzmán-Letelier; Sanchit Paul; Gustavo Molina; Lorena Sepúlveda; Ignacio Araya; Rubén Soto; Carolina Arriagada; Anne W Lucky; Jemima E Mellerio; Roger Cornwall; Fatimah Alsayer; Reinhard Schilke; Mark Adam Antal; Fernanda Castrillón; Camila Paredes; Maria Concepción Serrano; Victoria Clark Journal: Spec Care Dentist Date: 2020-11