Epidermolysis Bullosa
Year: 2025
Type: article
Abstract: Epidermolysis Bullosa (EB) is a heterogeneous group of rare, inherited skin disorders characterized by extreme skin fragility and the formation of blisters and erosions following minimal trauma. EB is classified into four major types-simplex, junctional, dystrophic, and Kindler syndrome-based on the level of skin cleavage and the underlying genetic mutations. The clinical spectrum ranges from mild localized blistering to severe, life- threatening forms with widespread mucocutaneous involvement, scarring, and significant morbidity. Complications include chronic wounds, infections, nutritional deficiencies, and an increased risk of aggressive squamous cell carcinoma, particularly in severe subtypes. Diagnosis is based on clinical evaluation, histopathological analysis, immunofluorescence mapping, and genetic testing. Management is multidisciplinary, focusing on wound care, infection prevention, pain control, nutritional support, and surveillance for complications. Recent advances in molecular genetics and gene therapy offer hope for targeted treatments, but EB remains a challenging disease with a significant impact on quality of life. Ongoing research and international collaboration are essential to improve outcomes for affected individuals.
Author: Melisa Hunis, Adrian Hunis
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W6912200377
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