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.

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.

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.

Evaluation of Treatments for Pruritus in Epidermolysis Bullosa.

Pruritus is a common complication in patients with epidermolysis bullosa (EB). There is limited published data about the treatments that individuals with EB use for pruritus. The objective of the current study was to determine quantitatively which treatments individuals with EB have used for pruritus and to evaluate the perceived effectiveness of these treatments in pruritus relief.

Prevalence and characterization of pruritus in epidermolysis bullosa.

Qualitative data suggest that pruritus is a burdensome symptom in patients with epidermolysis bullosa (EB), but the prevalence of pruritus in children and adults with EB and factors that contribute to pruritus are unknown. The objective of the current study was to quantitatively identify and to characterize pruritus that EB patients experience using a comprehensive online questionnaire. A questionnaire was developed to evaluate pruritus in all ages and all types of EB.

Differential effects of dietary supplements on metabolomic profile of smokers versus non-smokers.

Background: Cigarette smoking is well-known to associate with accelerated skin aging as well as cardiovascular disease and lung cancer, in large part due to oxidative stress. Because metabolites are downstream of genetic variation, as well as transcriptional changes and post-translational modifications of proteins, they are the most proximal reporters of disease states or reversal of disease states.

Methods: In this study, we explore the potential effects of commonly available oral supplements (containing antioxidants, vitamins and omega-3 fatty acids) on the metabolomes of smokers (n = 11) compared to non-smokers (n = 17).

A follow-up survey of the integrity of the dermatology National Resident Matching Program.

Background: Our group's 2009 study of the integrity of the dermatology match revealed that some dermatology program directors violated National Resident Matching Program (NRMP) policy during their communications with applicants. Our group's article concluded with recommendations to change this behavior.

Objective: We repeated a survey of dermatology applicants to understand if dermatology program personnel behavior has changed since our group's 2009 study of the dermatology match.

Diagnosis of pilomatricoma using an otoscope.

Pilomatricoma is a benign tumor that presents as a 3-30-mm, firm, solitary, deep, dermal or subcutaneous tumor on the head, neck, or upper extremities. The clinical diagnosis is often made by the firm, sometimes rock-hard texture of the skin. The diagnosis can be confirmed by a skin biopsy or excision of the lesion.