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The Macedo ileum-based reservoir for the management of bladder involvement in epidermolysis bullosa.
J Pediatr Urol
December 2024
Department of Pediatric Surgery and Urology, Medical University of Silesia, ul. Medyków 16, 40-752, Katowice, Poland.
Introduction: Epidermolysis bullosa (EB) can severely affect the urinary tract, leading to strictures and urine outflow obstruction, which pose significant risks to kidney function. Procedures involving the urinary mucosa often exacerbate these issues, making safe bladder emptying a major challenge. This study reviews surgical methods for managing urological complications in EB patients, with a focus on the Macedo procedure, which offers a promising alternative that avoids further bladder mucosa irritation and prevents disease exacerbation.
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.
View Article and Find Full Text PDFDevelopment and validation of the Iranian Minimum Data Set for Epidermolysis Bullosa: A mixed method approach.
PLoS One
January 2025
Assistant Professor of Health Information Management, Department of Health Information Technology, Ferdows Faculty of Medical Sciences, Birjand University of Medical Sciences, Birjand, Iran.
Minimum Data Set (MDS) enables integration in data collection, uniform data reporting, and data exchange across clinical and research information systems. The current study was conducted to determine a comprehensive national MDS for the Epidermolysis Bullosa (EB) information management system in Iran. This cross-sectional descriptive study consists of three steps: systematic review, focus group discussion, and the Delphi technique.
View Article and Find Full Text PDFTreatment of refractory, inflammatory epidermolysis bullosa acquisita with a combination of dupilumab and systemic glucocorticoid.
J Dermatol
January 2025
Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.
The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients' perspective.
Orphanet J Rare Dis
January 2025
EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
Article Synopsis
- Epidermolysis bullosa (EB) is a painful genetic skin condition causing blisters even from light touch, significantly impacting the quality of life of those affected.
- The study aims to analyze the psychosocial effects of living with EB and identify coping mechanisms through semi-structured interviews with individuals across three countries.
- Results reveal various physical, emotional, social, and functional challenges faced by people with EB, emphasizing the need for personalized emotional support and understanding of individual experiences.
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