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Rare and hereditary disorders
Epidermolysis bullosa
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Publications and studies (1209)
- Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children. (2022/11/18) ♡
- ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation. (2022/11/16) ♡
- 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. Chondroitin Sulfate Proteoglycan 4 as a Marker for Aggressive Squamous Cell Carcinoma. (2022/11/13) ♡
- Transnasal Humidified Rapid-Insufflation Ventilatory Exchange for Difficult Airway Management in Adults With Recessive Dystrophic Epidermolysis Bullosa: A Case Series. (2022/11/11) ♡
- The impact of using a multistrain probiotic supplement on gastrointestinal function in children and adolescents with severe recessive dystrophic epidermolysis bullosa. (2022/11/11) ♡
- Nail involvement in patients with epidermolysis bullosa: A systematic review. (2022/11/10) ♡
- 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. Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa. (2022/11/07) ♡
- Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family. (2022/11/07) ♡
- Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation. (2022/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report. (2022/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa. (2022/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Improved erythema and decreased blister formation in dominant dystrophic epidermolysis bullosa following treatment with pulsed dye laser. (2022/11/01) ♡
- 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. Epidermolysis Bullosa: A Review of the Tissue-Engineered Skin Substitutes Used to Treat Wounds. (2022/11/01) ♡
- Patient-reported outcomes and quality of life in dominant dystrophic epidermolysis bullosa: A global cross-sectional survey. (2022/11/01) ♡
- 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. Genome Editing in Therapy of Genodermatoses. (2022/11/01) ♡
- 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. Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature. (2022/11/01) ♡
- Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa. (2022/10/21) ♡
- 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. Endogenous reparative pluripotent Muse cells with a unique immune privilege system: Hint at a new strategy for controlling acute and chronic inflammation. (2022/10/19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa. (2022/10/17) ♡
- Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa. (2022/10/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Modified Non-Cultured Cell Spray Induced Epithelization in LAMB3 Mutation Epidermolysis Bullosa. (2022/10/14) ♡
- Therapeutic effects of Fc gamma RIV inhibition are mediated by selectively blocking immune complex-induced neutrophil activation in epidermolysis bullosa acquisita. (2022/10/13) ♡
- Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status. (2022/10/11) ♡
- Clinical manifestations of alopecia in autoimmune blistering diseases: A cross-sectional study. (2022/10/11) ♡
- Rare compound heterozygous variants of LAMB3 and histological features of enamel and oral mucosa. (2022/10/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe hyponatremia in an infant with epidermolysis bullosa: a case report. (2022/10/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report. (2022/10/06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Oral status in patients with inherited epidermolysis bullosa: A multicentric observational study. (2022/10/01) ♡
- Epidermolysis Bullosa: A case study in Cyprus and the nursing care plan. (2022/10/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Topical gabapentin 10% in the treatment of epidermolysis bullosa pruritus: A pilot, double-blind, split-site, randomized controlled trial. (2022/10/01) ♡
- Erratum to "Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harbouring the novel COL7A1 mutation c.3570G>A" [J. Dermatol. Sci. 106(3) (2022) 193-195]. (2022/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report. (2022/09/30) ♡
- Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa. (2022/09/29) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Cutaneous kinase activity correlates with treatment outcomes following PI3K delta inhibition in mice with experimental pemphigoid diseases. (2022/09/28) ♡
- Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors. (2022/09/16) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Bullosis diabeticorum as a differential diagnosis for limb ulcers: case report. (2022/09/09) ♡
- A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa. (2022/09/06) ♡
- Understanding the socioeconomic costs of dystrophic epidermolysis bullosa in Europe: a costing and health-related quality of life study. (2022/09/06) ♡
- Long-term follow-up of epidermolysis bullosa in real practice shows stability of the Epidermolysis Bullosa Disease Activity and Scarring Index and improvement with some off-label therapies. (2022/09/05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluating the use of laparoscopic-assisted gastrostomy tube feeding in children with epidermolysis bullosa: A single-center retrospective study. (2022/09/01) ♡
- 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. [Bullous autoimmune dermatoses of the mucous membranes]. (2022/09/01) ♡
- A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa. (2022/09/01) ♡
- 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. Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes. (2022/08/29) ♡
- COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa. (2022/08/25) ♡
- 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. Immunoglobulin Disorders and the Oral Cavity: A Narrative Review. (2022/08/19) ♡
- 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. Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds. (2022/08/15) ♡
- Integrin α3 negative podocytes: A gene expression study. (2022/08/11) ♡
- 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. Epidermolysis Bullosa Simplex. (2022/08/04) ♡
- Nutritional impairment of neonates with epidermolysis bullosa: a retrospective study. (2022/08/01) ♡
- Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa. (2022/08/01) ♡
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