Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa.

Background: Genotype-phenotype associations in recessive dystrophic epidermolysis bullosa (RDEB) have been difficult to elucidate.

Objective: To investigate RDEB genotype-phenotype associations and explore a functional approach to genotype classification.

Methods: Clinical examination and genetic testing of RDEB subjects, including assessment of clinical disease by RDEB subtype and extent of blistering.

Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients.

Background/objectives: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g.

Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal adhesion and integrity. Disease manifestations include severe and debilitating wounds, aggressive squamous cell carcinomas, and premature death; however, there are currently no approved therapies. This Phase 1/2a, open-label study evaluated the long-term efficacy and safety of gene-corrected autologous keratinocyte grafts (EB-101) for chronic RDEB wounds.

A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex.

Background: Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age.

Patient-reported outcomes and quality of life in dominant dystrophic epidermolysis bullosa: A global cross-sectional survey.

Introduction: Dystrophic epidermolysis bullosa is a debilitating skin condition, without curative treatment. Previous research has focused on the recessive variant, which is known to cause severe disease. Limited work focusing on the clinical manifestations and outcomes of dominant dystrophic epidermolysis bullosa is found (DDEB).

Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study.

Background: Epidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and pruritus and improve wound healing. CBM use has not been characterized in the EB patient population.

Objectives: To evaluate CBM use among EB patients, including CBM types, effects on symptoms (e.

Diagnosis and Care of the Newborn with Epidermolysis Bullosa.

Epidermolysis bullosa (EB) is a group of rare genetic disorders that are characterized by fragile skin. Because of its rarity, many neonatologists may not be familiar with the current diagnosis and treatment recommendations for EB. The classification of EB was updated in 2020.

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa.

Background/objective: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies. The objective of this manuscript is to provide a comprehensive literature review of the disease burden caused by RDEB.

Clinical characteristics associated with increased wound size in patients with recessive dystrophic epidermolysis bullosa.

As more therapeutic clinical trials focus on treatment of individual wounds in patients with recessive dystrophic epidermolysis bullosa, it has become crucial to understand the baseline clinical characteristics of these wounds. To investigate these features, we administered an RDEB-specific wound survey. Forty participants reported on location, size, pain, infection frequency, wound type, and duration of 189 wounds; a subset of 22 participants reported on pruritus in 63 wounds.

Financial burden of epidermolysis bullosa on patients in the United States.

Individuals with epidermolysis bullosa (EB), a group of genodermatoses with skin fragility, often require specialized and expensive bandaging. We analyzed the results from an online survey of 249 EB patients and caregivers living in the United States to investigate the financial impact of EB. Of respondents with severe EB subtypes (recessive dystrophic and junctional), 73% reported a major or moderate financial impact and 26% spent greater than $1000 per month on wound care supplies.

Induced Remission of Metastatic Squamous Cell Carcinoma with an Immune Checkpoint Inhibitor in a Patient with Recessive Dystrophic Epidermolysis Bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis that leads to skin fragility and chronic wound formation. Patients with RDEB are at risk for cutaneous squamous cell carcinoma (SCC) which is a major cause of morbidity and mortality in these patients. No standard of care exists for the treatment of SCC in this patient population and therapy is based on anecdotal reports and expert opinion.

Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey.

Background: A spectrum of skin disease severity exists in patients with recessive dystrophic epidermolysis bullosa (RDEB).

Objective: To characterize the patient-reported outcomes and quality of life (QOL) in patients with RDEB.

Methods: A cross-sectional study of patients with RDEB surveyed through the global EBCare Registry.

Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa.

BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) patients have mutations in the COL7A1 gene and thus lack functional type VII collagen (C7) protein; they have marked skin fragility and blistering. This single-center phase 1/2a open-label study evaluated the long-term efficacy, safety, and patient-reported outcomes in RDEB patients treated with gene-corrected autologous cell therapy.METHODSAutologous keratinocytes were isolated from participant skin biopsies.

Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa.

Importance: Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating, often fatal, inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. Support and palliation are the only current therapies.

Objective: To evaluate the safety and wound outcomes following genetically corrected autologous epidermal grafts in patients with RDEB.

Purified type I collagen wound matrix improves chronic wound healing in patients with recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa is a severe genetic blistering skin condition resulting in chronic wounds. Nonhealing wounds were treated over 8 weeks using a reconstituted natural purified type I collagen skin substitute. Chronic wounds were defined as nonhealing wounds present for longer than 6 months.