Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus

Abstract Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe mucocutaneous fragility disorder due to mutations in the COL7A1 gene encoding collagen VII, the major constituent of anchoring fibrils essential for epithelial adhesion. RDEB is characterized by unremitting bl...

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Main Authors: May El Hachem, Andrea Diociaiuti, Domenico Bonamonte, Michela Brena, Lucia Lospalluti, Cristina Magnoni, Iria Neri, Ketty Peris, Gianluca Tadini, Giovanna Zambruno, the Delphi Study Group
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03635-1
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