miR-200b-mediated reversion of a spectrum of epithelial to mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell carcinomas
CONCLUSIONS: In summary, RDEB-SCCs exist in different EMT states and the level of miR-200b is indicative of how far an RDEB-SCC has gone down the EMT path. Moreover, reintroduction of miR-200b significantly reduced mesenchymal features.PMID:37681509 | DOI:10.1093/bjd/ljad335 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - September 8, 2023 Category: Dermatology Authors: Julia Illmer Roland Zauner Josefina Pi ñón Hofbauer Monika Wimmer Stefanie Gruner Michael Ablinger Johannes Bischof Sonja Dorfer Stefan Hainzl Vanessa Tober Shir Bergson Ofer Sarig Liat Samuelov Christina Guttmann-Gruber Ruby Shalom-Feuerstein Eli Sprec Source Type: research
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab
ConclusionIn conclusion, the current investigation showed that to the best of our knowledge, this is the first DEB-Pr patient with heterozygous COL7A1 (NM_000094.3:c.8110G>A [p. Gly2704Arg]) who responded positively to dupilumab treatment without experiencing any serious side effects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 7, 2023 Category: Genetics & Stem Cells Authors: Caichou Zhao,
Shuanglin Cao,
Xinghua Gao,
Xuegang Xu,
Lixiong Gu Tags: ORIGINAL ARTICLE Source Type: research
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab
CONCLUSION: In conclusion, the current investigation showed that to the best of our knowledge, this is the first DEB-Pr patient with heterozygous COL7A1 (NM_000094.3:c.8110G>A [p. Gly2704Arg]) who responded positively to dupilumab treatment without experiencing any serious side effects.PMID:37676173 | DOI:10.1002/mgg3.2258 (Source: Molecular Medicine)
Source: Molecular Medicine - September 7, 2023 Category: Molecular Biology Authors: Caichou Zhao Shuanglin Cao Xinghua Gao Xuegang Xu Lixiong Gu Source Type: research
Birch Bark Extract: A Review in Epidermolysis Bullosa
AbstractBirch bark extract (Filsuvez®; also known as the developmental name Oleogel-S10), a topical gel consisting of 10% dry birch bark extract and 90% sunflower oil, is the first therapy approved in the EU and UK for the treatment of partial thickness wounds associated with dystrophic and junctional epidermolysis bullosa (EB) in patients aged ≥ 6 months old. In the pivotal double-blind, randomized, vehicle-controlled, phase III EASE trial in patients with EB, the primary endpoint was met, in which birch bark extract relative to control gel significantly increased the proportion of patients with first complete target...
Source: Drugs - September 2, 2023 Category: Drugs & Pharmacology Source Type: research
Gluten-sensitive Enteropathy in Recessive Dystrophic Epidermolysis Bullosa
Br J Dermatol. 2023 Sep 1:ljad313. doi: 10.1093/bjd/ljad313. Online ahead of print.NO ABSTRACTPMID:37655918 | DOI:10.1093/bjd/ljad313 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - September 1, 2023 Category: Dermatology Authors: Rosa Saced ón Mari á C de Arriba Luc ía Martínez-Santamaría Roc ío Maseda Sara Herr áiz-Gil Eva Jim énez Isabel Rosales Luc ía Quintana Nuria Illera Marta Garc ía Nora Butta Ihosvany Fern ández-Bello Su M Lwin Miguel Fern ández-Arquero Carlos Source Type: research
Gluten-sensitive Enteropathy in Recessive Dystrophic Epidermolysis Bullosa
Br J Dermatol. 2023 Sep 1:ljad313. doi: 10.1093/bjd/ljad313. Online ahead of print.NO ABSTRACTPMID:37655918 | DOI:10.1093/bjd/ljad313 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - September 1, 2023 Category: Dermatology Authors: Rosa Saced ón Mari á C de Arriba Luc ía Martínez-Santamaría Roc ío Maseda Sara Herr áiz-Gil Eva Jim énez Isabel Rosales Luc ía Quintana Nuria Illera Marta Garc ía Nora Butta Ihosvany Fern ández-Bello Su M Lwin Miguel Fern ández-Arquero Carlos Source Type: research
Gluten-sensitive Enteropathy in Recessive Dystrophic Epidermolysis Bullosa
Br J Dermatol. 2023 Sep 1:ljad313. doi: 10.1093/bjd/ljad313. Online ahead of print.NO ABSTRACTPMID:37655918 | DOI:10.1093/bjd/ljad313 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - September 1, 2023 Category: Dermatology Authors: Rosa Saced ón Mari á C de Arriba Luc ía Martínez-Santamaría Roc ío Maseda Sara Herr áiz-Gil Eva Jim énez Isabel Rosales Luc ía Quintana Nuria Illera Marta Garc ía Nora Butta Ihosvany Fern ández-Bello Su M Lwin Miguel Fern ández-Arquero Carlos Source Type: research
Luteolin peracetate and gossypolone inhibit immune complex-mediated neutrophil activation in vitro and dermal-epidermal separation in an ex vivo model of epidermolysis bullosa acquisita
In this study, we aimed to identify natural compounds as potential therapeutics for epidermolysis bullosa acquisita (EBA), an autoimmune disease caused by autoantibodies to type VII collagen (COL7).MethodsUtilizing an in vitro experimental system, we screened a natural product library composed of 800 pure compounds for their inhibitory effect on COL7-anti-COL7 IgG immune complex (IC)-mediated neutrophil activation and on neutrophil-mediated tissue damage.ResultsThree natural compounds, namely luteolin peracetate, gossypol, and gossypolone were capable in inhibiting the IC-induced neutrophil adhesion and oxygen burst in vit...
Source: Frontiers in Immunology - September 1, 2023 Category: Allergy & Immunology Source Type: research
Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates
Protein aggregates are common denominators of many neuromuscular pathologies such as Huntington ´s disease, Alzheimer´s disease and familial amyotrophic lateral sclerosis [1]. The distinct morphology, localization and composition of corresponding aggregates raises the question, whether they display common and distinctive features that can be exploited for diagnosis or therapy. Some protein a ggregates, such as inclusion bodies and aggresomes, are believed to be protective by sequestering misfolded proteins for degradation. (Source: Journal of Dermatological Science)
Source: Journal of Dermatological Science - August 29, 2023 Category: Dermatology Authors: Katrin Rietscher, Melanie Homberg, Ilya Kovalenko, Jonathan Z. Sexton, Robert H. Rice, Cristina Has, M. Bishr Omary, Thomas M. Magin Tags: Letter to the Editor Source Type: research
Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.PMID:37615526 | DOI:10.2340/actadv.v103.12404 (Source: Acta Derm Venereol A...)
Source: Acta Derm Venereol A... - August 24, 2023 Category: Dermatology Authors: Theofanis Zagoras Rahime Inci Despoina Kantere Peter Holmstr öm Jenny Brostr öm Martin Gillstedt Sam Polesie Sirkku Peltonen Source Type: research
Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.PMID:37615526 | DOI:10.2340/actadv.v103.12404 (Source: Acta Dermato-Venereologica)
Source: Acta Dermato-Venereologica - August 24, 2023 Category: Dermatology Authors: Theofanis Zagoras Rahime Inci Despoina Kantere Peter Holmstr öm Jenny Brostr öm Martin Gillstedt Sam Polesie Sirkku Peltonen Source Type: research
(New) Antenatal Ultrasound Signs of Fetal Junctional Epidermolysis Bullosa: A Case Report and Systematic Review OF Literature
Prenatal cases of epidermolysis bullosa (EB) are extremely rare. Antenatal diagnosis of EB is possible through suggestive family history, abnormal ultrasound findings and genetic analysis (based on samples of the fetus and parents). In particular, prenatal diagnosis of EB became possible through fetal DNA analysis if the responsible mutation is already known or by analysis of fetal skin biopsies using electron microscopy and indirect immunofluorescence [1]. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - August 24, 2023 Category: OBGYN Authors: Valentina Tosto, Beatriz Herrero, Tamara Illescas, Maria De la Calle Fernandez-Miranda, Barbara Moreno-Sanz, Raul de Lucas, Jos è Luis Bartha, Eugenia Antolin Tags: Review article Source Type: research
LB1725 Clinical characteristics and quality of life in patients with acral peeling skin syndrome: A pilot study
This study aimed to characterize the geno- and phenotypic scope of an APSS patient cohort to identify potential predictive and diagnostic markers as well as approaches to optimize quality of life (QoL) and patient-centered care. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: S. Yildiz, C. Prodinger, M. Laimer, J. Bauer Source Type: research
LB1724 Autosomal recessive epidermolysis bullosa simplex caused by missense and inframe mutations in PLEC is associated with minimal or delayed muscular dystrophy and possibly less laboratory abnormalities: A series of nine cases
Our study aimed to explore the genotype-phenotype correlation of epidermolysis bullosa simplex caused by PLEC mutations (EBS-PLEC). We analyzed the genotype and phenotype of nine patients with EBS-PLEC through patient interview, physical examination, mutational analysis, as well as skin biopsy with transmission electron microscopy (TEM) and immunofluorescence microscopy (IFM). We also used AlphaFold, a computer algorithm that predicts the 3D structure of proteins based on their amino acid sequence, to study the structural changes of three missense or inframe pathogenic variants found in this study. (Source: Journal of Inve...
Source: Journal of Investigative Dermatology - August 21, 2023 Category: Dermatology Authors: W. Tu, M. Yang, Y. Hong, Y. Lin, P. Hou, C. Wu, K. Natsuga, J. Lee, J.A. McGrath, C. Hsu Source Type: research
