ReviewOrphanet journal of rare diseases2010
Inherited epidermolysis bullosa.
Review in Orphanet journal of rare diseases, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
95 citing papers in PubMed, 1 synthesis or guideline pooled it, 242 citations in OpenAlex.
- Treatment methods for oesophageal strictures in paediatric patients with epidermolysis bullosa: a systematic review.BMJ paediatrics open · 2024Pooled it
- Reduction in Dressing Change Burden in Patients With Epidermolysis Bullosa-Impact of Oleogel-S10.The Journal of dermatology · 2025Trial
- Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study.Orphanet journal of rare diseases · 2020Trial
- Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study).Orphanet journal of rare diseases · 2020Trial
- Prevalence of Genodermatoses in Finland from 1995 to 2022: A Nationwide Registry Study.Acta dermato-venereologica · 2026Article
- Rare Coexistence of Familial Laryngo-Onycho-Cutaneous Syndrome (LOCS/Shabbir Syndrome) and Epidermolysis Bullosa With Multisystemic Involvement: A Case Series.Clinical case reports · 2026Article
- Epidermolysis bullosa and global challenges in translational research for rare diseases.Einstein (Sao Paulo, Brazil) · 2026Article
- Innovations in topical epidermolysis bullosa treatment: integrating advanced dressings, bioactive therapies and tissue-engineered skin.Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences · 2026Review
- Patient-reported outcomes during pregnancy and delivery in epidermolysis bullosa.BMC pregnancy and childbirth · 2025Article
- Inflammatory modulation by cord blood stem cells prevented digit deformation in recessive dystrophic epidermolysis bullosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report.Clinical case reports · 2025Article
- "It's like nursing a butterfly-so delicate, difficult, and unpredictable" - challenges of nurses in caring for patients with epidermolysis bullosa: a qualitative study.Orphanet journal of rare diseases · 2025Article
- Complexities of care in a pediatric patient with epidermolysis bullosa acquisita and duchenne muscular dystrophy: a case report.Journal of medical case reports · 2025Article
- Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2025Article
- A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.BMC medical genomics · 2025Article
- Development of pathological skin models: from conventional techniques to 3D bioprinting.Frontiers in bioengineering and biotechnology · 2025Review
- The Saudi National Policy and Protocol for Epidermolysis Bullosa.Risk management and healthcare policy · 2025Article
- Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa.Case reports in pediatrics · 2025Article
- Addressing the Unmet Educational Needs of Students with Epidermolysis Bullosa in Saudi Arabia.Risk management and healthcare policy · 2025Article
- CRISPR/Cas System: A Powerful Strategy to Improve Monogenic Human Diseases as Therapeutic Delivery; Current Applications and Challenges.Current gene therapy · 2025Review
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.