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Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases
BackgroundInvasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a...
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A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex
BackgroundEpidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample...
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A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa
BackgroundStandardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study...
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Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center
BackgroundEpidermolysis bullosa (EB) is a disabling and chronic genodermatosis characterized by mucocutaneous fragility with blister formation after...
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Investigational Treatments for Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin disorders characterized by skin fragility following minor...
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Patients’ and parents’ experiences during wound care of epidermolysis bullosa from a dyadic perspective: a survey study
BackgroundEpidermolysis bullosa is a rare, often severe, genetic disorder characterized by fragility of the skin and mucous membranes. Despite the...
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Molekulare Diagnostik und Therapie der Epidermolysis bullosa
Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by increased fragility of epithelialized tissues with the clinical...
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Wundtherapie mit kaltem Plasma bei Epidermolysis bullosa dystrophica
BackgroundCold atmospheric pressure plasma (CAP) has antimicrobial and wound-healing properties. Patients affected by severe autosomal recessive...
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Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa
BackgroundRecessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene,...
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Physiotherapy for epidermolysis bullosa: clinical practice guidelines
Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle...
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Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families
Epidermolysis bullosa (EB) is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility...
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Understanding the socioeconomic costs of dystrophic epidermolysis bullosa in Europe: a costing and health-related quality of life study
BackgroundDystrophic epidermolysis bullosa (EB) is a family of rare genetic dermatological conditions. Recent evidence indicated that in addition to...
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Dermatofibrosarcoma protuberans in a young patient with epidermolysis bullosa: a case report
BackgroundEpidermolysis bullosa is a group of rare inherited skin diseases characterized by blister formation following mechanical skin trauma....
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Epidermolysis Bullosa in children: the central role of the pediatrician
Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major...
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Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa
New insights into molecular genetics and pathomechanisms in epidermolysis bullosa (EB), methodological and technological advances in molecular...
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Generation of a recessive dystrophic epidermolysis bullosa mouse model with patient-derived compound heterozygous mutations
Recessive dystrophic epidermolysis bullosa (RDEB) is an intractable genetic disease of the skin caused by mutations in the COL7A1 gene. The majority...
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Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study
BackgroundEpidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and...
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Epidermolysis bullosa
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister...
