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Epidermolysis bullosa

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchMost rigorous evidence only (52)Treatment guideline (7)Meta-analysis (4)Systematic review (18)Phase 3 Study (15)Randomized trial (8)Clinical trial (147)Review article (153)Early study (phase 1 or 2) (20)Single patient description (248)Laboratory or animal research (18)Commentary or editorial (88)Retracted publication (1) Studies currently recruiting participants only (33)

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Publications and studies (1209)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature. (2024/09/01) ♡
• A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa. (2024/09/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives. (2024/08/31) ♡
• Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa. (2024/08/27) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Implant Treatment in Patients With Autoimmune Diseases: A Systematic Review and Analysis of Studies. (2024/08/23) ♡
• Real-world experience of using dupilumab and JAK inhibitors to manage pruritus in epidermolysis bullosa pruriginosa. (2024/08/19) ♡
• Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa. (2024/08/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Milia within resolving bullous pemphigoid lesions. (2024/08/15) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population. (2024/08/12) ♡
• Unveiling the value of C-reactive protein as a severity biomarker and the IL4/IL13 pathway as a therapeutic target in recessive dystrophic epidermolysis bullosa: A multiparametric cross-sectional study. (2024/08/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Treatment of Epidermolysis Bullosa and Future Directions: A Review. (2024/08/01) ♡
• Hydroelectrolytic and nutritional needs of infants with epidermolysis bullosa during the first month of life. (2024/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Endoscopic balloon dilation of esophageal stricture in dystrophic epidermolysis bullosa patient: challenges faced and safety of procedure. (2024/07/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant. (2024/07/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families. (2024/07/29) ♡
• Corrigendum: The impact, perceptions and needs of parents of children with epidermolysis bullosa. (2024/07/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Extensive Extragenital Lichen Sclerosus-Like Lesions in a Patient with Junctional Epidermolysis Bullosa. (2024/07/15) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in COL7A1 Gene. (2024/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab. (2024/06/09) ♡
• Epidermal or Dermal Collagen VII Is Sufficient for Skin Integrity: Insights to Anchoring Fibril Homeostasis. (2024/06/01) ♡
• Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa. (2024/06/01) ♡
• Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity. (2024/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report. (2024/05/27) ♡
• The novel application of syringe needle in recessive dystrophic epidermolysis bullosa syndactyly release surgery. (2024/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Comprehensive orthodontic treatment using miniscrews and digital rehabilitation in a patient with severe recessive dystrophic epidermolysis bullosa. (2024/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dapsone for the management of severe epidermolysis bullosa simplex: A case report and evidence for a repurposing trial. (2024/05/01) ♡
• Mechanism underlying pruritus in recessive dystrophic epidermolysis bullosa: Role of interleukin-31 from mast cells and macrophages. (2024/05/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current Treatment Landscape for Dystrophic Epidermolysis Bullosa: From Surgical Management to Emerging Gene Therapies and Novel Skin Grafts. (2024/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex. (2024/05/01) ♡
• Osteoporosis and bone health in pediatric patients with epidermolysis bullosa: A scoping review. (2024/05/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil. (2024/05/01) ♡
• Health-related quality of life and clinical severity in people with epidermolysis bullosa - A proposal for assessing nutritional compromise by body mass index (Birmingham Epidermolysis Bullosa Severity Score). (2024/04/26) ♡
• "Quality of Life in Epidermolysis Bullosa" and "Epidermolysis Bullosa Burden of Disease": Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires. (2024/04/19) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Neonatal epidermolysis bullosa: a clinical practice guideline. (2024/04/17) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Treatment of epidermolysis bullosa simplex with dupilumab. (2024/04/01) ♡
• Epidemiological Assessment of a Pediatric Palliative Care Clinic at a Brazilian Quaternary Hospital: 20 Years of Experience. (2024/04/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Methods for Decreasing Preweaning Mortality in a Fragile Mouse Model of Hypomorphic Collagen VII Deficiency. (2024/04/01) ♡
• Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion. (2024/03/01) ♡
• PRIMA-1(MET)/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells. (2024/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763. (2024/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical and genetic characteristics of CARD14-associated papulosquamous eruption in a paediatric case. (2024/03/01) ♡
• Efficacy of oral JAK1 or JAK1/2 inhibitor for treating refractory pruritus in dystrophic epidermolysis bullosa: A retrospective case series. (2024/03/01) ♡
• Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells. (2024/02/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Translated article] Successful Control of Recalcitrant Pruritus in Epidermolysis Bullosa Pruriginosa With Dupilumab. (2024/02/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Clinical-grade human skin-derived ABCB5+ mesenchymal stromal cells exert anti-apoptotic and anti-inflammatory effects in vitro and modulate mRNA expression in a cisplatin-induced kidney injury murine model. (2024/01/11) ♡
• Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients. (2024/01/03) ♡
• Metformin shows anti-neoplastic properties by inhibition of oxidative phosphorylation and glycolysis in epidermolysis bullosa-associated aggressive cutaneous squamous cell carcinoma. (2024/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with recessive dystrophic epidermolysis bullosa pruriginosa and digestive symptoms successfully treated with tofacitinib. (2024/01/01) ♡
• Gross motor development in children with epidermolysis bullosa. (2024/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs (2024-09-19) ♡

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