ArticleAnais brasileiros de dermatologia
Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.
Article 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 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Case Report: Two neonatal cases of genetically confirmed junctional epidermolysis bullosa in a tertiary care center.Frontiers in pediatrics · 2026Article
- The health-related quality of life of Brazilians with epidermolysis bullosa.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
- A Narrative Review of Molecular, Immunohistochemical and In-Situ Techniques in Dermatopathology.British journal of biomedical science · 2024Review
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil.Anais brasileiros de dermatologiaObservational
- Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.Anais brasileiros de dermatologiaArticle
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEpidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and consequently, most patients do not have an accurate diagnosis. Diagnosis allows the indication of prognosis and genetic counselling of the patient.
objectivesTo evaluate the cost-effectiveness of a gene panel compared to immunofluorescence mapping and transmission electron microscopy by analyzing its benefits, limitations, and economic aspects.
methodsThe gene panel included the 11 main genes associated with epidermolysis bullosa. The techniques were compared, assessing the average cost, advantages, and limitations, through a price survey and literature review.
resultsBoth immunofluorescence mapping and transmission electron microscopy require skin biopsy, are dependent on the investigator's expertise, and are subject to frequent inconclusive results. The gene panel is effective for the conclusive diagnosis of epidermolysis bullosa, presents high efficiency and accuracy, is economically feasible, and excludes the need for biopsy. The gene panel allows for prognosis, prenatal genetic diagnosis, and genetic counseling. STUDY LIMITATIONS: It was not possible to find laboratories that perform transmission electron microscopy for epidermolysis bullosa diagnosis in Brazil.
conclusionThis study supports the gene panel as the first-choice method for epidermolysis bullosa diagnosis.
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