The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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CONCLUSIONS: Hence, it is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations. PMID: 33034432 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence o...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disorder, characterized by trauma-induced blistering followed by soft tissue fibrosis. One of the most feared complications is the early de...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
Epidermolysis Bullosa simplex (EBS) is a rare disease, characterized by blistering and erosion of the skin and mucous membrane where the separation occurs within the basal layer of the epidermis due to fragility of basal keratinocytes. This disease is mostly inherited in autosomal dominant fashion, mostly due to mutations affecting either keratin 5 (KRT5) or keratin 14 (KRT14) genes. Most of reported EBS human models come from patient immortalized cell lines which limit the study of pathological phenotypes.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Stem Cells, Skin Appendages and Tissue Regeneration Source Type: research
Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
The purpose of this article is to summarize the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
(Universidad Carlos III de Madrid) A group of researchers from the Biomedical Research Networking Centre on Rare Diseases (CIBERER), Universidad Carlos III de Madrid (UC3M), the Research Center for Energy, Environmental and Technology (CIEMAT), and the Instituto de Investigaci ó n Sanitaria Fundaci ó n Jim é nez D í az (IIS-FJD) have led a study which demonstrates the viability of a gene editing strategy for recessive dystrophic epidermolysis bullosa (also known as butterfly chilidren) with the tool CRISPR/Cas9 in preclinical models with this disease.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
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