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Lived experiences of patients with epidermolysis bullosa: A rare genetic skin disease.
Health SA
December 2024
Department of Clinical Psychology, Faculty of Health Sciences, Greys Hospital, Pietermaritzburg, South Africa.
Background: Epidermolysis bullosa (EB) is a rare genodermatosis that results in extreme skin fragility, for which there is no cure and may be fatal. The quality of life of patients affected may be greatly impacted.
Aim: This study aims to understand the lived experiences of patients with EB.
Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the Phase III EASE Study.
Br J Dermatol
January 2025
The School of Translational Medicine, Monash University and Alfred Health, Melbourne VIC, Australia.
Background: Epidermolysis bullosa (EB) is a group of rare, severe, genetic disorders characterised by persistent skin fragility and open wounds. EB manifests as cutaneous and mucosal blistering, erosions and impaired wound healing.
Objectives: To determine the long-term efficacy, tolerability and safety of Oleogel-S10 (birch bark extract) in dystrophic (DEB) and junctional (JEB) EB in the 24-months open-label phase (OLP) of the EASE study.
Colchicine as a treatment option for inherited epidermolysis bullosa.
Clin Exp Dermatol
January 2025
Department of Dermatology, St George Hospital, Sydney, NSW, Australia.
Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes.
JID Innov
March 2025
Cell Biology & Cutaneous Research, Blizard Institute, Queen Mary University of London, London, United Kingdom.
Junctional epidermolysis bullosa caused by loss-of-function variants in genes encoding the skin basement membrane proteins laminin 332, type XVII collagen, or integrin α6β4 affects patients from birth with severe blistering, eventually leading to scarring and early lethality. In this study, we have optimized a previously published junctional epidermolysis bullosa-knockout mouse model with weekly tamoxifen intraperitoneal injections, resulting in a more controllable and severe model. Owing to the titratable dosing, this model now recapitulates both early and advanced stages of the human disease, strengthening its use in therapeutic studies.
View Article and Find Full Text PDFSystems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa.
Nat Commun
January 2025
National Institute of Health and Medical Research (INSERM) UMRS-976 HIPI, Paris Cité University, Saint-Louis Hospital, 75010, Paris, France.
Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease caused by COL7A1 pathogenic variants. Although underscored by animal studies, the endotypes of human RDEB are poorly understood.
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