‘It breaks my heart’: Healthcare practitioners’ caring for families with epidermolysis bullosa
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Epidermolysis bullosa (EB) is a painful genodermatosis presenting with skin fragility and blisters. There is no cure; the prognosis is guarded and depends on the subtype of the disease. Managing these patients can be emotionally challenging for healthcare practitioners.To determine the perceptions, impact, and needs of healthcare practitioners (HCP) caring for patients and their families with EB.Nelson Mandela School of Medicine, Durban and Grey's Hospital, Pietermaritzburg, KwaZulu-Natal.The study was guided by interpretative phenomenological analysis. Individual in-depth interviews were conducted with 10 healthcare practitioners. Guba's trustworthiness framework was used to ensure rigour.Six global themes were identified, each related primarily to the perceptions, impact, and needs of healthcare practitioners. The experiences and perceptions of healthcare practitioners were that caring for patients with an incurable disease such as EB could negatively impact healthcare practitioners. There were divergent views among the disciplines of HCPs regarding the extent of care in a resource-limited environment. This resulted in negative emotions, ethical concerns, and a need for continued medical education and the application of coping strategies. Healthcare practitioners observed that patients and their families were vulnerable, requiring comprehensive biopsychosocial care.Healthcare practitioners should be aware of their emotional challenges, seek support where necessary, and use effective coping strategies and self-care.The concerns and needs of healthcare practitioners are highlighted and interventional strategies to assist healthcare practitioners are suggested which will ultimately improve patient care.Children with epidermolysis bullosa can present with disease(s) of the ears, nose, and throat, often related directly to the pathophysiology of their epidermolysis bullosa. Otolaryngologic diseases in children with epidermolysis bullosa have to be managed having a proper understanding of the diagnosis and pathophysiology of epidermolysis bullosa. The purpose of this review is to describe the current nomenclature and diagnostic algorithms for epidermolysis bullosa, and methods for the management of cutaneous and mucosal lesions.Characterization of the gene defects leading to epidermolysis bullosa has allowed the utilization of immunofluorescent techniques as the primary method for epidermolysis bullosa diagnosis. Recognizing the difficulty in managing patients with epidermolysis bullosa, several multidisciplinary groups have developed guidelines using meta-analysis of the published literature, or expert panels. Though there are currently no effective treatment modalities for epidermolysis bullosa, techniques for gene and protein replacement show promising results for future use.Currently, the management of cutaneous and mucosal disease in epidermolysis bullosa is based on the principles of prevention and wound care. Understanding the cause of epidermolysis bullosa types and subtypes, characteristics of skin and mucosal involvement, and prognosis will guide in the development of individualized treatment plans.
Epidermolysis bullosa dystrophica
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Epidermolysis bullosa is a hereditary skin disorder characterized by skin fragility. However, the disease can manifest in many different organ systems, therefore children born with epidermolysis bullosa may have life long, complex medical needs. In this review, we will use a system-based approach to highlight important aspects of disease management and recent advancements in each of the areas. In addition, we will overview some of the cutting edge therapeutic developments in epidermolysis bullosa.Recent advancements in supportive care of epidermolysis bullosa with focus on wound, pain, pruritus and nutrition status were discussed. Clinical surveillance and complication prevention are critical to improve clinical outcomes. Generalized epidermolysis bullosa is a systemic disease with increased morbidity and mortality; therefore, complex care using a multidisciplinary approach will provide the greatest benefits for patients. Current targeted treatments for epidermolysis bullosa aim at restoring the skin integrity using protein, cell, and gene therapies.Improvement in care of epidermolysis bullosa in recent years results from keen clinical observation, novel molecular targeting, and the embracement of translational research.
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Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.
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Epidermolysis bullosa is a rare inherited bullous disease with unknown prevalence in most parts of the world. In Saudi Arabia the reported studies regarding epidermolysis bullosa are very limited. This paper presents the first study of epidermolysis bullosa cases from the Western province of Saudi Arabia. We studied 15 cases of inherited epidermolysis bullosa and classified the cases based on electron microscopic studies into the three basic types of epidermolysis bullosa. These results demonstrated that the most common type of epidermolysis bullosa in the cases studied is junctional epidermolysis bullosa, in contrast to previous reports where epidermolysis bullosa simplex and dystrophic epidermolysis bullosa are more common than junctional epidermolysis bullosa. These results reveal the need for a larger epidermolysis bullosa study in this part of the world
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Epidermolysis bullosa is an inherited group of rare genetic dermatosis characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. Epidermolysis bullosa is described in humans and domestic animals, and this dermatosis in humans is classified in four categories based predominantly on the plane of skin cleavage in simplex epidermolysis bullosa, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa and Kindler epidermolysis bullosa. In veterinary medicine the classification of epidermolysis bullosa is based in the human classification the according with the level of ultrastructural separation of skin. The epidermolysis bullosa in cats is a rare disease with a description of isolated cases involving the forms simplex, junctional and dystrophic. The laboratory diagnosis of cats under suspicion of epidermolysis bullosa should include dermo histopathology, transmission electron microscopy, immunofluorescence for antigen mapping and when possible, mutation analysis. There is no specific treatment for epidermolysis bullosa in cats, and care is palliative. The few case reports of epidermolysis bullosa in cats indicates a short time of survival with few months to years, being the cats sacrificed or dying during the first months of life. Due to these factors, it is essential the deep studies of disease in cats so that they can present an increase in expectancy and quality of life.
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Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechano-bullous disorders characterized by blister formation in response to mechanical trauma. The blistering of the skin occurs in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Epidermolysis Bullosa Simplex (EBS), the most commonly occurring type, is dominantly inherited where treatment still remains a major challenge. We report a newborn female with blistering of the skin during the immediate neonatal period.
Epidermolysis bullosa simplex
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Epidermolysis bullosa simplex
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Epidermolysis bullosa (EB) is a rare inherited skin disorder characterised by skin fragility and blistering. In consideration of the daily wound caring issues of patients with EB, the aim of this study is to systematically investigating their needs in a functional apparel that alleviates the symptoms of EB through interviews with EB patients and children with EB and their parents so that they can express their concerns about treatment and aesthetics and analysing feedback from their use of wound healing garments that our research team had previously designed. The results showed that it is undoubted that the wound healing garment fulfilled the needs for functionality yet also aesthetics in apparel for EB patients. A proposed apparel system from the results of the investigation will not only be applicable to EB patients, but could also apply to other patients with skin diseases who desire to enhance the wound healing process and receive better protection against wounds and infections. The findings in this paper could therefore contribute to future apparel based materials development and research in the medical field.
Textile
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