Observational studyJournal of the European Academy of Dermatology and Venereology : JEADV2021
Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?
Observational study in Journal of the European Academy of Dermatology and Venereology : JEADV, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Development and validation of the Iranian Minimum Data Set for Epidermolysis Bullosa: A mixed method approach.PloS one · 2025Pooled it
- Severe Junctional Epidermolysis Bullosa: Honoring Parental Values in Pediatric Palliative Decision-Making.Pediatric dermatology · 2026Article
- The Role of Biodegradable Temporizing Matrix in Hand Surgery for Paediatric Recessive Dystrophic Epidermolysis Bullosa.Journal of clinical medicine · 2026Article
- SOX2 Is a Potential Diagnostic Biomarker and Anticancer Target in Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa: A Case Series Study.JID innovations : skin science from molecules to population health · 2026Article
- Integration of a tele-dermatology model for Epidermolysis Bullosa improves patient outreach: a before and after observational study.Frontiers in digital health · 2026Article
- Article
- Skin microbiome analysis of a junctional epidermolysis bullosa patient treated with genetically modified stem cells.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Article
- An International Online Survey on Oral Hygiene Issues in Patients with Epidermolysis Bullosa.Dentistry journal · 2025Article
- The health-related quality of life of Brazilians with epidermolysis bullosa.Orphanet journal of rare diseases · 2025Article
- Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus.Orphanet journal of rare diseases · 2025Article
- Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Observational
- Systemic treatment of recessive dystrophic epidermolysis bullosa with mesenchymal stromal cells: a scoping review of the literature and conclusions for future clinical research.The Journal of dermatological treatment · 2024Article
- Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa.Journal of applied genetics · 2024Review
- Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).Orphanet journal of rare diseases · 2024Article
- Current Status of Biomedical Products for Gene and Cell Therapy of Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2024Review
- Advances in Treatments for Epidermolysis Bullosa (EB): Emphasis on Stem Cell-Based Therapy.Stem cell reviews and reports · 2024Review
- Epidemiological Characteristics of Inherited Epidermolysis Bullosa in an Eastern European Population.Journal of clinical medicine · 2024Article
- Emerging Gene Therapeutics for Epidermolysis Bullosa under Development.International journal of molecular sciences · 2024Review
- Review
- Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.Skin health and disease · 2024Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundEpidermolysis 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.
objectivesTo evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well-characterized cohort in the Dutch EB Registry.
methodsIn 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.
resultsA 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.
conclusionThe 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.
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Registered trials
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