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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Open accessAbstract
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.
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Citations
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Advances in epigenetics link genetics to the environment and disease
Cavalli, G., & Heard, E. (2019) · Nature · doi:10.1038/s41586-019-1411-0 · Cited by 1,509
Cited by
Bardhan, A., Bruckner-Tuderman, L., Chapple, I. L. C., Fine, J.-D., Harper, N., Has, C., Magin, T. M., Marinkovich, M. P., Marshall, J. F., McGrath, J. A., et al. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0210-0 · Cited by 455
Self-citationA prenatal skin atlas reveals immune regulation of human skin morphogenesis
Gopee, N. H., Winheim, E., Olabi, B., Admane, C., Foster, A. R., Huang, N., Botting, R. A., Torabi, F., Sumanaweera, D., Le, A. P., et al. (2024) · Nature · doi:10.1038/s41586-024-08002-x · Cited by 108
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Metadata
- Authors
- Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner‐Tuderman, L., Diem, A., Fine, J. ‐., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Moss, C., Murrell, D. F., Palisson, F., Schwieger‐Briel, A., Sprecher, E., Tamai, K., Uitto, J., Woodley, D. T., Zambruno, G., & Mellerio, J. E.
- Venue
- British Journal of Dermatology
- Publisher
- Oxford University Press (OUP)
- Published
- 2020-03-11
- Volume
- 183
- Issue
- 4
- Pages
- 614-627
- ISSN
- 0007-0963 (ISSN-L)
- 1365-2133
- OpenAlex
- W3005172635
- Cited by
- 797
- References
- 1
- FWCI
- 45.84
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner‐Tuderman, L., Diem, A., Fine, J. ‐., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Moss, C., Murrell, D. F., Palisson, F., Schwieger‐Briel, A., Sprecher, E., Tamai, K., Uitto, J., . . . Mellerio, J. E. (2020). Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. British Journal of Dermatology. https://doi.org/10.1111/bjd.18921
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