Two sisters developed a bullous skin disease in early childhood. The disease had features of junctional epidermolysis bullosa but differed clinically from previously recorded variants.
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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
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The School of Translational Medicine, Monash University and Alfred Health, Melbourne VIC, Australia.
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Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes.
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March 2025
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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 PDFPrevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa.
Oral Dis
January 2025
Facultad de Odontología, Universidad de Chile, Santiago, Chile.
Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
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Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Nagpur, India.
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