1 citations
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April 2024 in “The Journal of Dermatology” This case study reports that a woman with epidermolysis bullosa acquisita experienced severe cicatricial alopecia and total nail loss after discontinuing treatment for two years, highlighting the potential for serious effects if the condition is not managed.
March 2025 in “Journal of Investigative Dermatology” In this survey study, 44% of epidermolysis bullosa patients who tried cannabinoids reported effective symptom management, particularly pain relief, but concerns about cost, stigma, and accessibility remain significant. Further research is necessary to confirm these findings and optimize cannabinoid therapies for EB.
January 2023 in “Springer eBooks” This review discusses the causes, characteristics, and current management strategies for epidermolysis bullosa, emphasizing that while experimental therapies show promise, there are no definitive cures.
July 2022 in “Dermatology practical & conceptual” This study found that a topical henna formulation may improve symptoms like itching, burning, and redness in patients with recessive dystrophic epidermolysis bullosa, but larger controlled studies are needed.
January 2007 in “Bristol Research (University of Bristol)” This study diagnosed epidermolysis bullosa in eight calves across four UK farms, characterized by skin lesions and excluding mutations in keratin genes as the cause.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
December 2019 in “Saintika Medika” This case report describes a rare instance of a 23-year-old woman with both Epidermolysis Bullosa Acquisita and aggressive systemic lupus erythematosus, suggesting a potential immunogenetic link through HLA-DR2.
51 citations
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January 1997 in “PubMed” This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.
2 citations
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August 2004 in “Veterinary Dermatology” This case study in an 8-month-old mixed-breed dog with symptoms and histopathological findings supports a diagnosis of hereditary junctional epidermolysis bullosa, although specific genetic mutations weren't identified.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
14 citations
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August 2010 in “Journal of Investigative Dermatology” HPV does not cause aggressive cancer in RDEB patients.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.
1 citations
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May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
1 citations
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January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
March 2024 in “EMBO molecular medicine” This study found that the antiviral drug daclatasvir significantly improved fibrosis and quality of life in a mouse model of recessive dystrophic epidermolysis bullosa, suggesting potential for treating this and other fibrotic diseases.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
April 2019 in “Journal of Investigative Dermatology” This study found that post-hematopoietic cell transplantation epidermal grafting significantly reduced chronic wound size in patients with recessive dystrophic epidermolysis bullosa.
3 citations
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August 2024 in “Dermatology and Therapy” This review highlights preclinical and clinical advancements in gene and cell therapies for epidermolysis bullosa and ichthyosis, noting a recently FDA-approved gene therapy for recessive dystrophic EB.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
80 citations
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June 1997 in “The American Journal of Human Genetics”