A short RNA molecule and tumour aggressiveness in people with epidermolysis bullosa
Br J Dermatol. 2023 Dec 20;190(1):e9. doi: 10.1093/bjd/ljad466.NO ABSTRACTPMID:38124517 | DOI:10.1093/bjd/ljad466 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - December 21, 2023 Category: Dermatology Source Type: research
Biology of Pellino1: a potential therapeutic target for inflammation in diseases and cancers
Pellino1 (Peli1) is a highly conserved E3 Ub ligase that exerts its biological functions by mediating target protein ubiquitination. Extensive evidence has demonstrated the crucial role of Peli1 in regulating inflammation by modulating various receptor signaling pathways, including interleukin-1 receptors, Toll-like receptors, nuclear factor−κB, mitogen-activated protein kinase, and phosphoinositide 3-kinase/AKT pathways. Peli1 has been implicated in the development of several diseases by influencing inflammation, apoptosis, necrosis, pyroptosis, autophagy, DNA damage repair, and glycolysis. Peli1 is a risk factor for m...
Source: Frontiers in Immunology - December 18, 2023 Category: Allergy & Immunology Source Type: research
Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa
This article provides an updated overview of Vyjuvek, a Food and Drug Administration (FDA) approved medication and its potential in managing dystrophic epidermolysis bullosa (DEB). DEB is a rare genetic disorder characterized by skin fragility, blistering, wounds, and scarring. The underlying cause of DEB is the impaired production of type VII collagen (COL7), leading to weakened anchoring fibrils in the skin. Vyjuvek is the first topical gene therapy for DEB, utilizing a genetically modified HSV-1 (herpes simplex virus 1) vector to express human COL7 and promote wound healing. Clinical trials have shown that Vyjuvek incre...
Source: Herpes - December 15, 2023 Category: Infectious Diseases Authors: Afsheen Khan Rumaisa Riaz Saad Ashraf Aymar Akilimali Source Type: research
Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa
This article provides an updated overview of Vyjuvek, a Food and Drug Administration (FDA) approved medication and its potential in managing dystrophic epidermolysis bullosa (DEB). DEB is a rare genetic disorder characterized by skin fragility, blistering, wounds, and scarring. The underlying cause of DEB is the impaired production of type VII collagen (COL7), leading to weakened anchoring fibrils in the skin. Vyjuvek is the first topical gene therapy for DEB, utilizing a genetically modified HSV-1 (herpes simplex virus 1) vector to express human COL7 and promote wound healing. Clinical trials have shown that Vyjuvek incre...
Source: Herpes - December 15, 2023 Category: Infectious Diseases Authors: Afsheen Khan Rumaisa Riaz Saad Ashraf Aymar Akilimali Source Type: research
Current Treatment Landscape for Dystrophic Epidermolysis Bullosa: From Surgical Management to Emerging Gene Therapies and Novel Skin Grafts
This article provides an overview of DEB treatment with an emphasis on emerging gene therapies and novel skin grafts, especially as they pertain to pseudosyndactyly treatment.PMID:38085193 | DOI:10.1016/j.jhsa.2023.10.022 (Source: Hand Surgery)
Source: Hand Surgery - December 12, 2023 Category: Surgery Authors: Dillan F Villavisanis David P Perrault Sara N Kiani David Cholok Paige M Fox Source Type: research
Current Treatment Landscape for Dystrophic Epidermolysis Bullosa: From Surgical Management to Emerging Gene Therapies and Novel Skin Grafts
Epidermolysis bullosa is a genetic skin disorder characterized by blister formation from mechanical trauma. Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene presenting as generalized blisters from birth, which can result in extensive scarring, alopecia, esophageal stenosis, corneal erosions, and nail dystrophy. This disease also often leads to pseudosyndactyly of the digits from the closure of webspaces, progressing to a “mitten hand” deformity. Although traditional and current treatment for DEB is largely supportive with wound care and iterative surgical pseudosyndactyly release, emergi...
Source: The Journal of Hand Surgery - December 11, 2023 Category: Surgery Authors: Dillan F. Villavisanis, David P. Perrault, Sara N. Kiani, David Cholok, Paige M. Fox Tags: Current Concepts Source Type: research
Crowdfunding to alleviate financial burdens among patients with epidermolysis bullosa
(Source: Archives of Dermatological Research)
Source: Archives of Dermatological Research - December 7, 2023 Category: Dermatology Source Type: research
Monocyte populations are involved in the pathogenesis of experimental epidermolysis bullosa acquisita
Monocytes play a significant role in the pathogenesis of most inflammatory diseases, including autoimmune diseases. Herein, different subpopulations of monocytes often play differential, partially antagonistic roles, in the regulation of tissue populations. Pemphigoid diseases constitute a group of autoimmune blistering skin diseases featuring a marked infiltration of the dermis with immune cells, including monocytes. The monocyte subsets infiltrating the skin, however, have largely remained elusive. Monocyte adhesion and recruitment into the inflamed tissues are regulated by chemokine receptors, most prominently by CCR2 a...
Source: Frontiers in Immunology - December 5, 2023 Category: Allergy & Immunology Source Type: research
[[Translated article]]Successful Control of Recalcitrant Pruritus in Epidermolysis Bullosa Pruriginosa With Dupilumab
Actas Dermosifiliogr. 2023 Dec 2:S0001-7310(23)00951-1. doi: 10.1016/j.ad.2023.11.010. Online ahead of print.NO ABSTRACTPMID:38048956 | DOI:10.1016/j.ad.2023.11.010 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - December 4, 2023 Category: Dermatology Authors: B Roque Quintana E Piqu é Durán J A P érez Cejudo Source Type: research
[[Translated article]]Successful Control of Recalcitrant Pruritus in Epidermolysis Bullosa Pruriginosa With Dupilumab
Actas Dermosifiliogr. 2023 Dec 2:S0001-7310(23)00951-1. doi: 10.1016/j.ad.2023.11.010. Online ahead of print.NO ABSTRACTPMID:38048956 | DOI:10.1016/j.ad.2023.11.010 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - December 4, 2023 Category: Dermatology Authors: B Roque Quintana E Piqu é Durán J A P érez Cejudo Source Type: research
Highly efficient ex-vivo correction of COL7A1 through RNP-based CRISPR/Cas9 and Homology-Directed Repair to treat recessive dystrophic epidermolysis bullosa
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic skin disease responsible for blistering of the skin and mucosa after minor trauma. RDEB is caused by a wide variety of mutations in COL7A1 encoding C7, the major component of anchoring fibrils (AFs) which form key attachment structures for dermal-epidermal adherence.Here, we achieved highly efficient COL7A1 editing in primary RDEB keratinocytes (RDEB-K) and fibroblasts (RDEB-F) from two patients homozygous for the c.6508C>T (p.Gln2170*) mutation through CRISPR/Cas9-mediated Homology-Directed Repair. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 1, 2023 Category: Dermatology Authors: Camille Berthault, Sonia Gaucher, Olivier Gouin, Alain Schmitt, Mei Chen, David Woodley, Matthias Titeux, Alain Hovnanian, Araksya Izmiryan Tags: Original Article Source Type: research
P108 A rare presentation of the oral manifestations of Epidermolysis Bullosa Acquisita: a diagnostic challenge
Epidermolysis Bullosa Acquisita (EBA) is a rare, subepithelial bullous disorder which is mediated by autoantibodies to collagen VII. Oral manifestations are uncommon and may mimic those of other vesiculobullous conditions. Accurate diagnosis presents a challenge and is essential in effective management. The literature is currently limited surrounding the oral manifestations of EBA. (Source: The British Journal of Oral and Maxillofacial Surgery)
Source: The British Journal of Oral and Maxillofacial Surgery - December 1, 2023 Category: ENT & OMF Authors: Layla Whyatt, Layla Whyatt, Sylwia Nowak, Imran Suida Source Type: research
CO106 A Structured Expert Elicitation Exercise Conducted With UK Clinicians to Inform and Validate Inputs for a Cost-Effectiveness Analysis of FILSUVEZ ® Gel (Birch Bark Extract) in Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a rare, chronic, genetic disorder characterised by skin fragility and blistering. Current standard of care (SoC), although heterogenous between patients, focuses on wound care, complication management, and improving quality of life. A structured expert elicitation (SEE) was conducted to inform key assumptions, validate data, and provide estimates for clinical and resource use parameters for a cost-effectiveness model (CEM), evaluating the impact of Filsuvez ® gel, licensed by EMA and MHRA, for treating partial thickness wounds in dystrophic EB (DEB) and junctional EB (JEB), in patients ≥6 m...
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: L. Stainer, S. Ryder, E. Carr, C. Collins, M. Arora, K. Tolley Source Type: research
EE399 Exploring the Economic Consequences of Caring for Patients With Rare Diseases: A Systematic Literature Review
This study investigated the economic burden associated with caregiving in six different RD: Huntington's disease (HD), dystrophic epidermolysis bullosa (DEB), hereditary angioedema (HAE), transthyretin amyloidosis (ATTR), Stargardt Disease (SD), and alpha-1 antitrypsin deficiency (A1T1). (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: O. Crossley, A. Bodke, C. Knott, E. Samuels, M. Tang Source Type: research
