“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires
Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma. Four major types are distinguishe... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 19, 2024 Category: Pediatrics Authors: May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertov á, Christine Bodemer, Dédée F. Murrell and Damiano Abeni Tags: Research Source Type: research
Practical guide for epidermolysis bullosa management in the first 4 weeks of life
Br J Dermatol. 2024 Apr 17;190(5):e52. doi: 10.1093/bjd/ljae118.NO ABSTRACTPMID:38630929 | DOI:10.1093/bjd/ljae118 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 17, 2024 Category: Dermatology Source Type: research
Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease resulting from inadequate type VII collagen (C7). Although recurrent skin blisters and wounds are the most apparent disease features, the impact of C7 loss is not confined to the skin and mucous membranes. RDEB is a systemic disease marred by chronic inflammation, fibrotic changes, pain, itch, and anemia, significantly impacting QOL and survival. In this narrative review, we summarize these systemic features of RDEB and promising research avenues to address them. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 12, 2024 Category: Dermatology Authors: Courtney Popp, William Miller, Cindy Eide, Jakub Tolar, John A. McGrath, Christen L. Ebens Tags: Review Source Type: research
Inpatient Management of Epidermolysis Bullosa: Consensus-Based Hands-On Instructions for Neonates and Post-Neonates
Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. (Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - April 9, 2024 Category: Dermatology Authors: Brenda Abreu Molnar, Laura Levin, Duri Yun, Kimberly Morel, Karen Wiss, Julie Wieser, Christopher Ward, Haley Trice, Maria Teresa Garcia-Romero, Allison Stephenson, Adrienne Provost, Harper N. Price, Marissa J. Perman, Morgan Moxon, Beth Moeves, Catherine Source Type: research
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature
Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary caus... (Source: BMC Pediatrics)
Source: BMC Pediatrics - April 5, 2024 Category: Pediatrics Authors: Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga and Hongyan Lu Tags: Case Report Source Type: research
Lipid nanoparticles efficiently deliver the base editor ABE8e for COL7A1 correction in dystrophic epidermolysis bullosa fibroblasts in vitro.
Lipid nanoparticles (LNPs) have been widely approved and used on a global scale for delivery of mRNA. LNPs can package and deliver mRNA encoding gene editors, including adenine base editors (ABEs), which convert A •T base pairs to G•C base pairs without double-stranded DNA breaks or donor DNA (Gaudelli et al. 2017). ABE is a potential treatment approach for the inherited blistering disease dystrophic epidermolysis bullosa (DEB). DEB results from pathogenic variants in COL7A1, leading to dysfunctional or a bsent type VII collagen (C7), a major component of anchoring fibrils (AFs) that adhere the dermal-epidermal junctio...
Source: Journal of Investigative Dermatology - April 5, 2024 Category: Dermatology Authors: Ina Guri-Lamce, Yara Alrokh, Carina Graham, Ruhina Maeshima, Emanuel Rognoni, Matthew Caley, Łukasz Łaczmański, Stephen L. Hart, John A. McGrath, Joanna Jacków-Malinowska Tags: Letters to the Editor Source Type: research
Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa
Curr Drug Targets. 2024 Apr 1. doi: 10.2174/0113894501290512240327091531. Online ahead of print.ABSTRACTEpidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally c...
Source: Current Drug Targets - April 3, 2024 Category: Drugs & Pharmacology Authors: Inna Syafarina Maulida Mazaya Ariani Indrawati Sharfina Zahra Akbar Rifki Sadikin Caecilia Sukowati Source Type: research
Combined rituximab and belimumab to treat recalcitrant epidermolysis bullosa aquisita associated with systemic lupus erythematosus
Br J Dermatol. 2024 Apr 2:ljae141. doi: 10.1093/bjd/ljae141. Online ahead of print.NO ABSTRACTPMID:38561894 | DOI:10.1093/bjd/ljae141 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 2, 2024 Category: Dermatology Authors: Thomas J Tull Emma C Benton Kristina Semkova Natalie A Watson John B Mee Begona Lopez Jane Setterfield Barbara Carey Sajjad Ajmad Scott J Robbie Richard W Groves Giovanni Sanna David P D'Cruz Source Type: research
Combined rituximab and belimumab to treat recalcitrant epidermolysis bullosa aquisita associated with systemic lupus erythematosus
Br J Dermatol. 2024 Apr 2:ljae141. doi: 10.1093/bjd/ljae141. Online ahead of print.NO ABSTRACTPMID:38561894 | DOI:10.1093/bjd/ljae141 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 2, 2024 Category: Dermatology Authors: Thomas J Tull Emma C Benton Kristina Semkova Natalie A Watson John B Mee Begona Lopez Jane Setterfield Barbara Carey Sajjad Ajmad Scott J Robbie Richard W Groves Giovanni Sanna David P D'Cruz Source Type: research
Combined rituximab and belimumab to treat recalcitrant epidermolysis bullosa aquisita associated with systemic lupus erythematosus
Br J Dermatol. 2024 Apr 2:ljae141. doi: 10.1093/bjd/ljae141. Online ahead of print.NO ABSTRACTPMID:38561894 | DOI:10.1093/bjd/ljae141 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - April 2, 2024 Category: Dermatology Authors: Thomas J Tull Emma C Benton Kristina Semkova Natalie A Watson John B Mee Begona Lopez Jane Setterfield Barbara Carey Sajjad Ajmad Scott J Robbie Richard W Groves Giovanni Sanna David P D'Cruz Source Type: research
Dipeptidyl peptidase-4-mediated fibronectin processing evokes a pro-fibrotic extracellular matrix
Fibronectin serves as a platform to guide and facilitate deposition of collagen and fibrillin microfibrils. During development of fibrotic diseases, altered fibronectin deposition in the extracellular matrix (ECM) is generally an early event. Following this, dysregulated organization of fibrillins and fibrillar collagens occurs. Because fibronectin is an essential orchestrator of healthy ECM, perturbation of its ECM-organizational capacity may be involved in development of fibrosis. To investigate this, we employed recessive dystrophic epidermolysis bullosa (RDEB) as a disease model with progressive, severe dermal fibrosis...
Source: Journal of Investigative Dermatology - April 1, 2024 Category: Dermatology Authors: Karina A. Zeyer, Olivier Bornert, Valentin Nelea, Xinyi Bao, Alexandre Leytens, Svetlana Sharoyan, Gerhard Sengle, Alvard Antonyan, Leena Bruckner-Tuderman, J örn Dengjel, Dieter P. Reinhardt, Alexander Nyström Tags: Original Article Source Type: research
