Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Treatment 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.
Filsuvez (Birch Triterpenes) Topical Gel.
Skinmed
January 2025
Baylor Scott & White University Hospital, Dallas, TX.
Filsuvez (birch triterpenes) topical gel received approval in 2023 for the treatment of epidermolysis bullosa (EB) in pediatric patients (aged ≥6 months) and adults. It promotes wound healing by modulating inflammation, encouraging new tissue formation, and maintaining the skin barrier. In a randomized, double-blind, controlled, parallel-group, phase III trial (EASE, NCT03068780), 223 patients were randomly assigned to two groups: the first group received treatment with birch triterpenes topical gel (study gel, n = 109), and the second group received treatment with vehicle gel (n = 114).
View Article and Find Full Text PDFWhen care hurts: parents' experiences of caring for a child with epidermolysis bullosa.
Orphanet J Rare Dis
December 2024
Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.
Results: The purpose of this study was to explore parental experiences of caring for a child with EB.
Advanced phasing techniques in congenital skin diseases.
J Dermatol
December 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!