AI Article Synopsis
- Hereditary epidermolysis bullosa (HES) is a diverse set of rare genetic skin disorders that cause the skin and mucous membranes to be fragile, leading to varying degrees of severity.
- Patients often experience painful skin wounds from birth, with the condition's progression differing among individuals and types.
- Care is crucial from infancy and continues throughout life, requiring nurses to understand key skin care principles while tailoring their approach to each patient's unique needs.
Article Abstract
Hereditary epidermolysis bullosa (HES) is a heterogeneous group of rare genetic disorders characterized by localized or generalized fragility of the skin and/or mucous membranes, varying greatly in severity from one form to another and even within a subgroup. Skin wounds can be a source of pain, pruritus and discomfort from birth. Progression varies from patient to patient and from form to form. Specific care must be provided from the neonatal period onwards, and throughout life, to aid healing and limit complications. Nurses are at the heart of skin care for HES patients, and must be familiar with the main principles, while adapting to the individual.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.soin.2023.09.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A spatiotemporal and machine-learning platform facilitates the manufacturing of hPSC-derived esophageal mucosa.
Dev Cell
January 2025
Program in Epithelial Biology and Center for Definitive and Curative Medicine, Stanford University, Stanford, CA, USA. Electronic address:
Human pluripotent stem cell-derived tissue engineering offers great promise for designer cell-based personalized therapeutics, but harnessing such potential requires a deeper understanding of tissue-level interactions. We previously developed a cell replacement manufacturing method for ectoderm-derived skin epithelium. However, it remains challenging to manufacture the endoderm-derived esophageal epithelium despite possessing a similar stratified epithelial structure.
View Article and Find Full Text PDFHarnessing Mesenchymal Stromal Cells for Advanced Wound Healing: A Comprehensive Review of Mechanisms and Applications.
Int J Mol Sci
December 2024
Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland.
Chronic wounds and injuries remain a substantial healthcare challenge, with significant burdens on patient quality of life and healthcare resources. Mesenchymal stromal cells (MSCs) present an innovative approach to enhance tissue repair and regeneration in the context of wound healing. The intrinsic presence of MSCs in skin tissue, combined with their roles in wound repair, ease of isolation, broad secretory profile, and low immunogenicity, makes them especially promising for treating chronic wounds.
View Article and Find Full Text PDFFunctional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.
Br J Dermatol
January 2025
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFThe 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 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!