RESUMEN
Epidermolysis bullosa (EB) is a group of rare inherited bullous skin disorders that differ in nature and severity. Currently, there is no cure for the disease. One of the complex problems of EB is the repetitive and painful care of skin wounds. The purpose of this study was to explore how adult patients and parents experienced the impact of wound care during childhood and which coping strategies they considered as helping. A qualitative study was performed, comprising semi-structured in-depth interviews with 7 adult patients and 6 parents. The impact, physically, psychologically and on daily life, was apparent for patients and parents. Helpful coping strategies were transferring care, regulating emotions, and dyadic strategies, such as supporting each other by distraction, encouragement, using rituals and collaboration. The most important finding of this study is the need for a more thorough investigation into the effectiveness of dyadic coping strategies.
Asunto(s)
Adaptación Psicológica , Hijos Adultos/psicología , Vendajes , Costo de Enfermedad , Emociones , Epidermólisis Ampollosa/terapia , Dolor/psicología , Padres/psicología , Adulto , Factores de Edad , Anciano , Epidermólisis Ampollosa/diagnóstico , Epidermólisis Ampollosa/psicología , Femenino , Humanos , Entrevistas como Asunto , Masculino , Persona de Mediana Edad , Dolor/diagnóstico , Investigación CualitativaRESUMEN
Patients with the genetic blistering disease epidermolysis bullosa (EB) often have chronic wounds that can become colonized by different bacteria, especially the opportunistic pathogen Staphylococcus aureus. We therefore determined the S. aureus colonization rates in EB patients from the Netherlands by collecting swabs from their anterior nares, throats and wounds. Within a period of â¼2 years, more than 90% of the sampled chronic wounds of EB patients were found to be colonized by S. aureus. Molecular typing revealed that EB patients were not colonized by a single S. aureus type. Rather the S. aureus population structure in the sampled EB patients mirrored the local S. aureus population structure within the Netherlands. Furthermore, multiple types of S. aureus were found in close proximity to each other within individual chronic wounds, indicating that these S. aureus types are not mutually exclusive. Over time, strong fluctuations in the S. aureus types sampled from individual EB patients were observed. This high exposure to different S. aureus types is apparently reflected by high plasma levels of antistaphylococcal IgG's, especially in patients carrying multiple S. aureus types. It remains to be determined to what extent this strong immune response protects EB patients against serious staphylococcal infections. Lastly, further research is needed to define the impact of staphylococcal colonization of chronic wounds on the development, exacerbation and healing of such wounds in patients with EB.
Asunto(s)
Epidermólisis Ampollosa/complicaciones , Epidermólisis Ampollosa/patología , Interacciones Huésped-Patógeno , Infecciones Estafilocócicas/epidemiología , Infecciones Estafilocócicas/patología , Staphylococcus aureus/aislamiento & purificación , Anticuerpos Antibacterianos/sangre , Epidermólisis Ampollosa/microbiología , Genotipo , Humanos , Inmunoglobulina G/sangre , Tipificación Molecular , Países Bajos/epidemiología , Prevalencia , Infecciones Estafilocócicas/microbiología , Staphylococcus aureus/clasificación , Staphylococcus aureus/genéticaRESUMEN
Patients with the blistering disease, epidermolysis bullosa (EB), frequently suffer from chronic wounds that become colonized by pathogenic bacteria, such as Staphylococcus aureus. To determine S. aureus colonization rates in patients with EB, swabs were collected from the anterior nares, throats and wounds of 52 Dutch patients with EB. Swabs were also collected from nares and throats of 13 healthcare workers who occasionally meet the sampled patients with EB. All EB patients with chronic wounds and 75% of the patients without chronic wounds were colonized with S. aureus. In contrast, 39% of the sampled healthcare workers were colonized with S. aureus. Typing revealed a high degree of genetic diversity of 184 collected S. aureus isolates. Autoinoculation of S. aureus in individual patients with EB was shown to occur frequently, whereas transmission of S. aureus between patients with EB is apparently rare. There was no evidence for S. aureus transmission between patients with EB and healthcare workers.
Asunto(s)
Epidermólisis Ampollosa/microbiología , Infecciones Estafilocócicas/microbiología , Staphylococcus aureus/aislamiento & purificación , Epidermólisis Ampollosa/complicaciones , Variación Genética , Humanos , Infecciones Estafilocócicas/transmisión , Staphylococcus aureus/genéticaRESUMEN
BACKGROUND: Epidermolysis bullosa is a rare, often severe, genetic disorder characterized by fragility of the skin and mucous membranes. Despite the important role of parents during wound care, an essential factor in adapting to this disease, studies focusing on the parent-child relationship during wound care are scarce. The current study is aimed at addressing this gap. METHODS: A quantitative study among 31 children (n = 21 ≤ 17 years; n = 10 17-25 years) and 34 parents (including 27 parent-child dyads) was conducted to examine the relationship between pain, itch, anxiety, positive and negative feelings, and coping strategies assessed with the newly developed Epidermolysis Bullosa Wound Care List. The majority of the analyses were descriptive and the results were interpreted qualitatively because of the small sample size. RESULTS: Children and parents both showed significantly more positive (i.e. 'protected', 'proud', 'calm', 'connected to each other' and 'courageous') than negative feelings (i.e. 'helpless', 'angry', 'insecure', 'guilty', 'gloomy' and 'sad') during wound care, with parents reporting both feelings more than children. The more children experienced pain, the more they were anxious, had negative feelings, were inclined to use distraction, to postpone wound care and to cry. The more parents experienced feelings (either positive or negative), the more likely they sought distraction. With regard to child-parent dyads the results showed that the more children expressed anxiety, the more parents experienced negative feelings. Furthermore, those who reported more negative feelings were more likely to hide their feelings, while those who reported more positive feelings were more inclined to show their feelings. Pain, itch and anxiety in the child were associated with more distraction or postponement of wound care by the parent. CONCLUSION: This study underlines the importance of paying attention to the relationship between feelings and coping strategies in child-parent dyads in the management of pain and anxiety during wound care. Further research could provide more insight how these feelings and coping strategies are related to the psychological well-being of both the child and the parent in the short term as well as in the long term.
Asunto(s)
Epidermólisis Ampollosa , Padres , Adaptación Psicológica , Epidermólisis Ampollosa/psicología , Humanos , Dolor , Relaciones Padres-Hijo , Padres/psicologíaRESUMEN
Patients with the genetic blistering skin condition epidermolysis bullosa (EB) report severe pain as a consequence of skin and mucous membrane lesions including blisters, wounds, and scars. Adequate symptom alleviation is not often achieved using conventional pharmacologic interventions. Finding novel approaches to pain care in EB is imperative to improve the quality of life of patients living with EB. There are several anecdotal reports on the use of cannabinoid-based medicines (CBMs) by EB patients to reduce the burden of symptoms. However, controlled clinical investigations assessing these reported effects are lacking. As the pain quality "unpleasantness" delineates EB pain, we hypothesize the modulation of affective pain processing in the brain by way of intervention with CBMs comprising the cannabinoids Δ-9-tetrahydrocannabinol and cannabidiol-objectified by functional magnetic resonance imaging (fMRI). The C4EB study is an investigator-initiated, single-centre, randomized, double-blind, placebo-controlled and crossover trial. Adult patients with the diagnosis epidermolysis bullosa, reporting chronic pain will be eligible to participate. Following baseline measurements, participants will be randomized to receive the sublingually administered interventions placebo and Transvamix® in forward or reversed orders, each for two weeks and separated by a washout. The primary outcome is the difference in numeric rating scale pain scores between grouped interventions, using affective descriptors within the Short-form McGill Pain Questionnaire-2. Secondary outcomes include pain self-efficacy, concomitant analgesic medication-use and adverse events. Additionally, fMRI will be employed to assess brain connectivity related to neuroanatomic pain circuits at baseline, placebo and Transvamix® interventions. The study was approved by the ethical committee at the University Medical Center of Groningen in the Netherlands. Results will be submitted for publication in a peer-reviewed journal. Trial registration number: Netherlands Trial Register: NL9347 (Acronym: C4EB).
Asunto(s)
Cannabidiol , Dolor Crónico , Epidermólisis Ampollosa , Adulto , Humanos , Dolor Crónico/etiología , Dolor Crónico/inducido químicamente , Estudios Cruzados , Dronabinol , Calidad de Vida , Cannabidiol/uso terapéutico , Método Doble Ciego , Epidermólisis Ampollosa/complicaciones , Epidermólisis Ampollosa/tratamiento farmacológico , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
Several forms of epidermolysis bullosa (EB) present oral manifestations. Blistering of the (peri)oral mucosa affects the opening of the mouth, the mobility of the tongue and lips, thereby restricting oral functions. We describe the prevalence and characteristics of oral manifestations of EB in relation to loss of oral functions in a cross-sectional study of different types of EB patients using standardized measurement techniques. Twenty-two patients were included. The mobility of the mandible, lips and tongue was measured, the mandibular function impairment questionnaire (MFIQ) was filled out and additional questions regarding hindrance of EB during oral hygiene and intelligibility of speech (being understood) were asked in structured interviews. The median age was 11.8 yrs. Mobility of the mandible, tongue and lip was restricted, oral hygiene procedures were hindered in most patients. A data comparison was made between the recessive dystrophic EB (RDEB) and junctional EB (JEB) groups. Mandibular function was impaired in both groups but more severely in the RDEB-population. Intelligibility in both groups was almost unaffected. Restrictions in mobility of the mouth, tongue and lips are frequently present in EB patients. These are most severe in the RDEB group and support the clinical relevance of optimizing symptomatic treatment.
Asunto(s)
Vesícula/patología , Epidermólisis Ampollosa Distrófica/fisiopatología , Mucosa Bucal/patología , Boca/fisiopatología , Piel/patología , Habla/fisiología , Adolescente , Adulto , Biopsia , Vesícula/etiología , Niño , Preescolar , Estudios Transversales , Epidermólisis Ampollosa Distrófica/epidemiología , Epidermólisis Ampollosa Distrófica/patología , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Masculino , Persona de Mediana Edad , Países Bajos/epidemiología , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Adulto JovenRESUMEN
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that primarily manifest as blisters and erosions following mild mechanical trauma. Despite the crucial role of the parents of children with EB in managing the disease, studies focusing on the parent-child relationship remain a gap in the literature. To address this gap, the current quantitative study, involving 55 children with all types of EB and 48 parents, assessed the relationship between their quality of life and coping strategies. Quality of life was measured with the Pediatric Quality of Life Inventory and TNO-AZL Questionnaire for Adult's Health- related Quality of Life, and coping strategies were assessed with the Coping with a Disease Questionnaire. The majority of the analyses were descriptive and the results were interpreted qualitatively because of the small sample size. RESULTS: Overall, the quality of life of children with EB and that of their parents was somewhat lower compared with the quality of life of healthy children and adults. Children with EB who more frequently used emotional reactions and cognitive-palliative strategies to cope with the disease demonstrated lower levels of emotional and social functioning, while children who showed more acceptance and distancing showed higher levels of functioning on all domains. Parents who frequently demonstrated emotional reactions reported lower levels of social functioning and experienced more depressive emotions and anger. Parents who used more avoidance showed higher levels of positive emotions. Within parent-child dyads, acceptance, cognitive-palliative strategies and distancing were positively related. Children's emotional and social functioning were negatively associated with their parents' depressive emotions. Parents' acceptance was linked to higher physical functioning in children, whereas children's avoidance was linked to a lower level of anger in parents. CONCLUSION: Children who are able to accept the disease or distance themselves from it appear to be better off in contrast to those who tend to engage in the cognitive-palliative strategies and expressing emotional reactions. Parents seem to be better off when they are able to use avoidance in contrast to those who tend to show emotional reactions. Further research is needed to substantiate these findings.
Asunto(s)
Epidermólisis Ampollosa , Calidad de Vida , Adaptación Psicológica , Adulto , Niño , Humanos , Relaciones Padres-Hijo , PadresRESUMEN
Epidermolysis bullosa (EB) is a genetic blistering skin condition for which no cure exists. Symptom alleviation and quality of life are therefore central to EB care. This study aimed to gain insight into EB patient needs and benefits from current clinical care. Two questionnaires were administered cross-sectionally to adult EB patients at the Dutch expertise centre for blistering diseases. Patient needs and benefits were analyzed using the patient benefit index survey (PBI-S). Ancillary data were compiled pertaining to self-reported EB severity, pain and pruritus, as well as current and previous treatments. In total, 104 participants were included (response rate 69.8%). Sixty-eight participants comprised the analyzed cohort (n = 36 omitted from analysis). The needs given the highest importance were to get better skin quickly (64.7%) and to be healed of all skin alterations (61.8%). A positive correlation between pain and EB severity and the importance of most needs was observed. Minimal clinically important differences within the PBI-S, relating to reported benefits from clinical care, were reported by 60.3% of the cohort. This study highlights a discrepancy between patient needs and feasible treatment outcomes. Utilizing the PBI-S in conjunction with well-established multidisciplinary care may catalyze the process of tailoring treatments to the needs of individual patients.
RESUMEN
BACKGROUND: Epidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and pruritus and improve wound healing. CBM use has not been characterized in the EB patient population. OBJECTIVES: To evaluate CBM use among EB patients, including CBM types, effects on symptoms (e.g., pain and pruritus), disease process (e.g., blistering, wounds, and inflammation), well-being (e.g., sleep, appetite) and concomitant medications. METHODS: English-speaking EB patients or caregivers completed an online international, anonymous, cross-sectional survey regarding CBM use. Respondents reported the types of CBMs, subsequent effects including perceived EB symptom alteration, changes in medication use, and side effects. RESULTS: Seventy-one EB patients from five continents reported using or having used CBMs to treat their EB. Missing question responses ranged between 0 (0%) and 33 (46%). Most used more than one CBM preparation (mean: 2.4 ± 1.5) and route of administration (mean: 2.1 ± 1.1). Topical and ingested were the most common routes. Pain and pruritus were reported retrospectively to decrease by 3 points (scale: 0-10; p < 0.001 for both) after CBM use. Most reported that CBM use improved their overall EB symptoms (95%), pain (94%), pruritus (91%) and wound healing (81%). Most participants (79%) reported decreased use of pain medications. The most common side-effect was dry mouth (44%). CONCLUSIONS: CBMs improve the perception of pain, pruritus, wound healing, and well-being in EB patients and reduced concomitant medication use. Nevertheless, a direct relation between the use of CBMs and reduction of the above-mentioned symptoms cannot be proven by these data. Therefore, future controlled studies using pharmaceutically standardised CBM preparations in EB are warranted to delineate the risks and benefits of CBMs.
Asunto(s)
Cannabinoides , Epidermólisis Ampollosa , Estudios Transversales , Epidermólisis Ampollosa/tratamiento farmacológico , Humanos , Estudios Retrospectivos , Encuestas y CuestionariosRESUMEN
Epidermolysis Bullosa (EB) is a rare genetic blistering-skin disorder with varying degrees of severity, ranging from mild forms to severe forms, with chronic progression. The aim of this study was to identify and specify the problems of parents of a child with EB. Qualitative research methodology was used, comprising a series of semistructured interviews with eleven families. The key problems of parents were broken down into three themes, related to the child, the family, and the care providers. These themes comprised nine categories, including (1) the child being different, (2) the child suffering pain, (3) feelings of uncertainty, (4) restrictions on employment and leisure time, (5) difficulties in organization of care, (6) never being off-duty, (7) family problems, (8) ignorance and lack of skills of care providers, and (9) resistance to difficult care. Despite the great variance in clinical pictures of the different (sub)types of EB, the main problems parents experienced appear quite similar. However, the problems did appear to differ in extensiveness, intensity, and gravity.
Asunto(s)
Cuidadores/psicología , Epidermólisis Ampollosa/fisiopatología , Epidermólisis Ampollosa/psicología , Padres/psicología , Adolescente , Niño , Preescolar , Niños con Discapacidad/psicología , Salud de la Familia , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Relaciones Padres-HijoRESUMEN
Wound-colonizing microorganisms can form complex and dynamic polymicrobial communities where pathogens and commensals may co-exist, cooperate or compete with each other. The present study was aimed at identifying possible interactions between different bacteria isolated from the same chronic wound of a patient with the genetic blistering disease epidermolysis bullosa (EB). Specifically, this involved two different isolates of the human pathogen Staphylococcus aureus, and isolates of Bacillus thuringiensis and Klebsiella oxytoca. Particular focus was attributed to interactions of S. aureus with the two other species, because of the high staphylococcal prevalence among chronic wounds. Intriguingly, upon co-cultivation, none of the wound isolates inhibited each other's growth. Since the extracellular proteome of bacterial pathogens is a reservoir of virulence factors, the exoproteomes of the staphylococcal isolates in monoculture and co-culture with B. thuringiensis and K. oxytoca were characterized by Mass Spectrometry to explore the inherent relationships between these co-exisiting bacteria. This revealed a massive reduction in the number of staphylococcal exoproteins upon co-culturing with K. oxytoca or B. thuringiensis. Interestingly, this decrease was particularly evident for extracellular proteins with a predicted cytoplasmic localization, which were recently implicated in staphylococcal virulence and epidemiology. Furthermore, our exoproteome analysis uncovered potential cooperativity between the two different S. aureus isolates. Altogether, the observed exoproteome variations upon co-culturing are indicative of unprecedented adaptive mechanisms that set limits to the production of secreted staphylococcal virulence factors.
Asunto(s)
Proteínas Bacterianas/análisis , Coinfección/microbiología , Epidermólisis Ampollosa/microbiología , Interacciones Microbianas , Proteoma/análisis , Bacillus thuringiensis/química , Bacillus thuringiensis/crecimiento & desarrollo , Bacillus thuringiensis/aislamiento & purificación , Humanos , Klebsiella oxytoca/química , Klebsiella oxytoca/crecimiento & desarrollo , Klebsiella oxytoca/aislamiento & purificación , Espectrometría de Masas , Staphylococcus aureus/química , Staphylococcus aureus/crecimiento & desarrollo , Staphylococcus aureus/aislamiento & purificaciónRESUMEN
The opportunistic pathogen Staphylococcus aureus is known to interfere with wound healing and represents a significant risk factor for wound infections and invasive disease. It is generally assumed that one individual is predominantly colonized by one S. aureus type. Nevertheless, patients with the genetic blistering disease epidermolysis bullosa (EB) often carry multiple S. aureus types. We therefore investigated whether different S. aureus types are present in individual wounds of EB patients and, if so, how they are spatially distributed. The staphylococcal topography in chronic wounds was mapped by replica-plating of used bandages and subsequent typing of S. aureus isolates. Individual chronic wounds of five patients contained up to six different S. aureus types. Unexpectedly, distinct S. aureus types formed micro-colonies that were located in close proximity and sometimes even overlapped. While some adjacent S. aureus isolates were closely related, others belonged to distinct molecular complexes. We conclude that the general assumption that one individual is predominantly colonized by one type of S. aureus does not apply to chronic wounds of EB patients. We consider this observation important, not only for EB patients, but also for other patients with chronic wounds in view of the potential risk for severe staphylococcal infections.
Asunto(s)
Epidermólisis Ampollosa/microbiología , Staphylococcus aureus/aislamiento & purificación , Heridas y Lesiones/microbiología , Vendajes/microbiología , Humanos , Filogenia , Staphylococcus aureus/fisiologíaRESUMEN
An interdisciplinary team approach, in which the treatment can be individualized to each patient and his or her family and tailored to the severity of the disease, is most beneficial to the patient with epidermolysis bullosa (EB). In the Netherlands, the Center for Blistering Diseases in Groningen provides a large interdisciplinary EB team that performs at a high level to provide the best EB-patient care for both children and adults. The possibility of rapid diagnosis, the efficient carrousel-like clinics, and the continuity in care are typical elements of the Dutch method of delivering interdisciplinary EB care.
Asunto(s)
Continuidad de la Atención al Paciente/organización & administración , Dermatología/organización & administración , Epidermólisis Ampollosa/terapia , Programas Nacionales de Salud/organización & administración , Grupo de Atención al Paciente/organización & administración , Continuidad de la Atención al Paciente/normas , Dermatología/normas , Eficiencia Organizacional , Humanos , Modelos Organizacionales , Programas Nacionales de Salud/normas , Países Bajos , Grupo de Atención al Paciente/normasRESUMEN
This article includes a list of resources for patients with epidermolysis bullosa in the Netherlands.
Asunto(s)
Epidermólisis Ampollosa/diagnóstico , Epidermólisis Ampollosa/terapia , Sistema de Registros , Humanos , Países BajosRESUMEN
The objective of this study was to identify and specify the problems of children with epidermolysis bullosa. The questions explored were: (i) What do children with epidermolysis bullosa experience as the most difficult problems; (ii) What is the impact of these problems on their daily life; and (iii) Do these experiences differ between mildly and severely affected children? Qualitative research methodology was used, comprising a series of semi-structured interviews with children with different (sub)types of epidermolysis bullosa. The interviews were analysed systematically with help of the qualitative software package Atlas-ti. Five main themes were found: (i) having an itchy skin, (ii) being in pain, (iii) having difficulties with participation, (iv) lack of understanding of others, and (v) the feeling of being different. Severely affected children suffered most from itch and treatment-related pain. Mildly affected children had more problems with activity-related pain. Mildly affected children also had more concerns about their appearance and the teasing and staring of others than did severely affected children. Both groups had difficulties with participation, the visibility of their disease and the feeling of being different.