Patients' and parents' experiences during wound care of epidermolysis bullosa from a dyadic perspective:a survey study

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 = 2

The relationship between quality of life and coping strategies of children with EB and their parents

BackgroundEpidermolysis 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.ResultsOverall, 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.ConclusionChildren 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

The C4EB study—Transvamix (10% THC / 5% CBD) to treat chronic pain in epidermolysis bullosa:A protocol for an explorative randomized, placebo controlled, and double blind intervention crossover study

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)

Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry:EB more common than previously assumed?

Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. Objectives To evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well-characterized cohort in the Dutch EB Registry. Methods In this observational study all EB-patients that were based in the Netherlands and captured in the Dutch EB Registry between 1988 and 2018 were included. The epidemiological outcomes were based on complete diagnostic data (clinical features, immunofluorescence, electron microscopy and mutation analysis), with longitudinal follow-up. Results A total of 464 EB-patients (287 families) were included. The incidence and point-prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB) and Kindler EB were diagnosed in 45.7%, 18.8%, 34.7% and 0.9% of the EB-patients, respectively, with an incidence and point-prevalence of 17.5 and 11.9 (EBS), 9.3 and 2.1 (JEB), 14.1 and 8.3 (DEB), 0.5 and 0.2 (Kindler EB). In 90.5% of the EB-patients the diagnosis was genetically confirmed. During the investigated time period 73 EB-patients died, 72.6% of whom as a direct consequence of their EB. Conclusion The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized set-up, indicating that EB might be more common than previously assumed. These epidemiological data help to understand the extensive need for (specialized) medical care of EB-patients and is invaluable for the design and execution of therapeutic trials. This study emphasizes the importance of thorough reporting systems and registries worldwide

The needs of parents with children suffering from lethal epidermolysis bullosa

Background Some subtypes of the heterogeneous genetic blistering disease epidermolysis bullosa (EB) lead to lethality in childhood. The severity and extent of blistering leaves these patients living in excruciating pain and distress their entire lives. Parents of these patients experience some specific problems, such as the unfamiliarity of EB amongst healthcare professionals and the suffering and loss of their child. Objective To identify the needs of parents who have lost their child to lethal EB. Methods A qualitative study was performed, comprising semistructured, in-depth interviews with 16 parents. The transcripts were analysed and common themes were identified. Results Parents indicated that they have the need (i) for a fast and correct referral to a specialized EB clinic, (ii) to be informed as honestly as possible about the diagnosis and lethal prognosis, (iii) to have a structured network of caregivers in the palliative care, (iv) to be involved in the care and the medical decisions involving their child, (v) to be informed about the end of life and to discuss euthanasia, (vi) for guidance and to have remembrances of their child, and (vii) for genetic counselling. Conclusions Our job as healthcare professionals is to provide the best care not only for children suffering from lethal EB, but also for their parents. In this study, parents have provided us with some guidelines to care for them. However, it is important to keep in mind that every parent is different, and that the guidance should be tailored to their individual needs

Restrictions in oral functions caused by oral manifestations of epidermolysis bullosa

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

Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa

Background Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a rare, autosomal recessive disease caused by absence of the epidermal basement membrane adhesion protein laminin-332. It is characterized by extensive and devastating blistering of the skin and mucous membranes, leading to death in early childhood. Objectives To present the results of the long-term follow-up of a cohort of patients with JEB-H, and to provide guidelines for prognosis, treatment and care. Methods All patients with JEB-H included in the Dutch Epidermolysis Bullosa (EB) Registry between 1988 and 2011 were followed longitudinally by our EB team. Diagnosis was established using immunofluorescence antigen mapping, electron microscopy and DNA analysis. Results In total, we included 22 patients with JEB-H over a 23-year period. Their average age at death was 5.8 months (range 0.5-32.6 months). The causes of death were, in order of frequency: failure to thrive, respiratory failure, pneumonia, dehydration, anaemia, sepsis and euthanasia. The pattern of initial weight gain was a predictor of lifespan in these patients. Invasive treatments to extend life did not promote survival in our patients. Conclusions It is important to diagnose JEB-H as soon as possible after birth so that the management can be shifted from life-saving to comfort care. The palliative end-of-life care can take place in hospital, but is also safe in the home setting. Suffering in patients with JEB-H can become so unbearable that in some patients who do not respond to adequate analgesic and sedative treatment, newborn euthanasia, performed according to the Groningen protocol, is legally permitted in the Netherlands

Impact of Painful Wound Care in Epidermolysis Bullosa During Childhood: An Interview Study with Adult Patients and Parents

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

Living Donor Kidney Transplantation in a Patient With Epidermolysis Bullosa: A Case Report

Severe recessive dystrophic epidermolysis bullosa is a very rare inherited disease with excessive blisters forming starting at birth. Surgical intervention in this population creates a challenge: preventing formation of new lesions while managing previously scarred tissues. We present a case of a 27-year-old patient with end-stage renal disease caused by rapidly progressive IgA nephropathy. Living donor kidney transplantation was performed under local, spinal and epidural anesthesia. Living kidney transplantation in epidermolysis bullosa patients with end-stage renal disease should not be a contraindication for transplantation and should be considered as a viable and feasible option after careful preparation

The C4EB study—Transvamix (10% THC / 5% CBD) to treat chronic pain in epidermolysis bullosa: A protocol for an explorative randomized, placebo controlled, and double blind intervention crossover study

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