ReviewNature reviews. Disease primers2020
Epidermolysis bullosa.
Review in Nature reviews. Disease primers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04727268 (Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa), which is not on this map. Cited by 229 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa
Who cites it
229 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Tissue and systemic inflammation in dystrophic epidermolysis bullosa: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline.The British journal of dermatology · 2025Guideline
- Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update.Orphanet journal of rare diseases · 2025Pooled it
- Development and validation of the Iranian Minimum Data Set for Epidermolysis Bullosa: A mixed method approach.PloS one · 2025Pooled it
- Mesenchymal stromal cell infusions of umbilical cord-derived mesenchymal stromal cells in children with Recessive Dystrophic Epidermolysis Bullosa (MissionEB): a qualitative sub study of a randomised, double-blind, placebo controlled, crossover, phase 3 trial.Orphanet journal of rare diseases · 2026Trial
- A First-In-Human Randomized Controlled Phase 1 Study Assessing the Safety and Tolerability of Topical TCP-25 Gel in Epidermal Suction Blister Wounds.Clinical and translational science · 2026Trial
- MesenSistem-EB: systemic haploidentical mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa associated with clinical benefits and correlated with MCP1 and sCD40L dynamics.Frontiers in immunology · 2026Trial
- Long-Term Safety and Tolerability of Beremagene Geperpavec-svdt (B-VEC) in an Open-Label Extension Study of Patients with Dystrophic Epidermolysis Bullosa.American journal of clinical dermatology · 2025Trial
- Dentofacial Characteristics in Patients With Epidermolysis Bullosa-A Cross-Sectional Study.Clinical and experimental dental research · 2026Article
- SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa.Animal genetics · 2026Article
- A PepFect14 analog improves non-viral CRISPR delivery in primary human cells to facilitate genome editing and repair.Bioengineering & translational medicine · 2026Article
- From the Microscope to the Genome: A New Era in the Molecular Genetics of Epidermolysis Bullosa.International journal of molecular sciences · 2026Review
- Health-Related Quality of Life of Patients withJournal of market access & health policy · 2026Article
- The puzzling effect of disease severity on quality of life in epidermolysis bullosa.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Article
- Update on Approved Therapies for Dystrophic and Junctional Epidermolysis Bullosa.Pediatric dermatology · 2026Review
- Dermal papillary fibroblasts promote persistent granulation tissue formation in junctional epidermolysis bullosa.EMBO molecular medicine · 2026Article
- Sustained clinical remission of epidermolysis bullosa simplex due to a pathogenic KRT14 variant in a 7-year-old girl.JAAD case reports · 2026Article
- Epidermolysis Bullosa Simplex-Severe Caused by KRT5 p.Glu477Lys: Challenges Encountered in This High-Risk Subtype.Pediatric dermatology · 2026Article
- Severe Junctional Epidermolysis Bullosa: Honoring Parental Values in Pediatric Palliative Decision-Making.Pediatric dermatology · 2026Article
- Treatment Landscape for Epidermolysis Bullosa Simplex: A Review of Established and Emerging Therapies.Pediatric dermatology · 2026Review
169 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
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. A broad phenotypic spectrum has been described, with potentially severe extracutaneous manifestations, morbidity and mortality. Over 30 subtypes are recognized, grouped into four major categories, based predominantly on the plane of cleavage within the skin and reflecting the underlying molecular abnormality: EB simplex, junctional EB, dystrophic EB and Kindler EB. The study of EB has led to seminal advances in our understanding of cutaneous biology. To date, pathogenetic mutations in 16 distinct genes have been implicated in EB, encoding proteins influencing cellular integrity and adhesion. Precise diagnosis is reliant on correlating clinical, electron microscopic and immunohistological features with mutational analyses. In the absence of curative treatment, multidisciplinary care is targeted towards minimizing the risk of blister formation, wound care, symptom relief and specific complications, the most feared of which - and also the leading cause of mortality - is squamous cell carcinoma. Preclinical advances in cell-based, protein replacement and gene therapies are paving the way for clinical successes with gene correction, raising hopes amongst patients and clinicians worldwide.
Indexed as
Identifiers
32973163What 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.