ReviewAnais brasileiros de dermatologia
Inherited epidermolysis bullosa: update on the clinical and genetic aspects.
Review in Anais brasileiros de dermatologia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 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
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Development and validation of the Iranian Minimum Data Set for Epidermolysis Bullosa: A mixed method approach.PloS one · 2025Pooled it
- Skin Dose and Toxicity in Patients With Epidermolysis Bullosa Undergoing Radiation Therapy.Advances in radiation oncology · 2026Article
- Clinical manifestations, genetic characteristics and laboratory markers of patients with epidermolysis bullosa: a single tertiary referral center experience.Annals of medicine · 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
- Treatment Landscape for Epidermolysis Bullosa Simplex: A Review of Established and Emerging Therapies.Pediatric dermatology · 2026Review
- Blistering in a neonate: Epidermolysis bullosa or staphylococcus scalded skin syndrome?Dermatology online journal · 2026Article
- Developing CRISPR-Based Therapies for Epidermolysis Bullosa: A Comprehensive Review of Current Strategies.Drugs · 2026Review
- Dominant Dystrophic Epidermolysis Bullosa withMolecular syndromology · 2026Article
- An isogenic hiPSC-derived keratinocyte model reveals CXCL10/CXCL11 inflammatory dysregulation in epidermolysis bullosa simplex.Frontiers in cell and developmental biology · 2026Article
- Patient-reported outcomes during pregnancy and delivery in epidermolysis bullosa.BMC pregnancy and childbirth · 2025Article
- Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2025Article
- Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: A Review of Pathogenesis, Diagnosis and Management.Cancers · 2025Review
- An International Online Survey on Oral Hygiene Issues in Patients with Epidermolysis Bullosa.Dentistry journal · 2025Article
- Review
- The Spectrum of Epidermolysis Bullosa in KwaZulu-Natal, South Africa.International journal of dermatology · 2025Observational
- Induced Pluripotent (iPSC) and Mesenchymal (MSC) Stem Cells for In Vitro Disease Modeling and Regenerative Medicine.International journal of molecular sciences · 2025Review
- The impact of epidermolysis bullosa on quality of life and mental health.Discover mental health · 2025Article
- Non-Herlitz junctional epidermolysis bullosa in a Native American newborn.Journal of osteopathic medicine · 2025Article
- Effectiveness of low-laser therapy on cutaneomucosal lesions in patients with epidermolysis bullosa: a scoping review.Lasers in medical science · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.
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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.