Francis Palisson

N -acetylcysteine exerts senescence-selective antifibrotic effects in fibroblast from chronic wounds in recessive dystrophic epidermolysis bullosa

Evelyng Catalán, Belén Dianta, Nicole Koplow, Paola Tiozzo-Lyon et autres

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disease caused by pathogenic biallelic variants in COL7A1, resulting in dermoepidermal fragility and chronic, nonhealing wounds. We investigated the contribution of fibroblast senescence to RDEB wound pathology and evaluated whether N-acetylcysteine can …

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Long‐Term Efficacy and Safety of Oleogel‐ S10 (Birch Triterpenes) for Pediatric Patients With Epidermolysis Bullosa

Eli Sprecher, Mauricio Torres Pradilla, Maria Florencia Fernandez, Christine Bodemer et autres

BACKGROUND/OBJECTIVES: Pediatric patients with epidermolysis bullosa (EB) experience lifelong complications, and wound healing is an important treatment goal. In the phase III EASE study (NCT03068780), Oleogel-S10 accelerated wound healing in EB. This prespecified subgroup analysis evaluated the long-term efficacy and safety of …

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Enfoque clínico del paciente con síndrome de Stevens-Johnson y necrólisis epidérmica tóxica: Parte II

Nelson Lobos‐Guede, Fernando Valenzuela, Valeria Alfaro-Fierro, Francis Palisson

SJS, SJS/TEN and TEN are severe and uncommon adverse drug reactions, representing different manifestations within a spectrum of the same disease characterized by denudation of the skin and mucous membranes. The literature reports outcomes with systemic corticosteroids, intravenous immunoglobulin, cyclosporine, TNF-alpha inhibitors, …

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Enfoque clínico del paciente con síndrome de Stevens-Johnson y necrólisis epidérmica tóxica: Parte II

Nelson Lobos, Fernando Valenzuela, Valeska López, Valeria Alfaro-Fierro et autres

RESUMEN El SSJ, SSJ/NET y NET son reacciones adversas graves e infrecuentes a medicamentos, que representan distintas manifestaciones de una misma enfermedad caracterizada por el denudamiento de piel y mucosas. En la literatura se han reportado resultados con corticoides sistémicos, inmunoglobulina endovenosa, …

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KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients

Veronika Ramovš, H. Sophia Chen, Rayman T.N. Tjokrodirijo, Peter A. van Veelen et autres

AIMS: A striking aspect of epidermolysis bullosa patients with a mutation in KLHL24 (KLHL24mut) is their life-threatening deterioration of heart function. KLHL24 is a component of the ubiquitin-proteasome system and acts as a substrate-specific adaptor protein for E3 ubiquitin ligase. KLHL24mut is …

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Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

Emily Warshauer, Paul Maier, Göran Runfeldt, Ignacia Fuentes et autres

BACKGROUND: c.6527insC mutation is curiously prevalent among individuals with RDEB and is found worldwide in Europe and the Americas. Previous research has suggested the possibility of a Sephardic Jewish origin of the mutation; however, individuals with RDEB are not known to have …

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Advances in antioxidant therapies for epidermolysis bullosa management

Antonella Muñoz, Evelyng Catalán, M Cossio, Francis Palisson et autres

Die österreichische Ausgabe der Zeitschrift steht Mitgliedern der ÖGDV mit Nachrichten, Mini-Reviews und Mini-Perspektiven, Berichten und Artikeln zur Verfügung. Die Artikel erscheinen in English und/oder Deutsch.

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A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions

Alfred Klausegger, Fabian Leditzky, Susanne Krämer, Francis Palisson et autres

Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the …

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Enfoque clínico del paciente con síndrome de Stevens-Johnson y necrólisis epidérmica tóxica. Parte I: Epidemiología, Diagnóstico y Factores Pronósticos

Nelson Lobos, Fernando Valenzuela, Francis Palisson

Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe cutaneous manifestations of adverse drug reactions. This first review aims to provide an update on the epidemiological, pathophysiological, clinical manifestations, diagnostic, and prognostic aspects of these conditions. AIM: To establish an updated …

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Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

Colomba Besa‐Witto, Ana Ortega‐Pinto, Sebastián Véliz, Marco Cornejo‐Ovalle et autres

INTRODUCTION: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, …

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Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa

N. Pironon, María Joao Yubero, Sabine Duchatelet, Stéphanie Leclerc‐Mercier et autres

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in …

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Author response for "Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa"

Colomba Besa‐Witto, Ana Ortega‐Pinto, Sebastián Véliz, Ignacia Fuentes et autres