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Characteristics of Patients With Dystrophic Epidermolysis Bullosa

2014-08-27 03:17:45 | BioPortfolio

Summary

Dystrophic epidermolysis bullosa (DEB) is a group of diseases caused by genetic mutations in the gene for type VII collagen. DEB can be severe or mild with the recessive disease usually being more severe. Patients with DEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with DEB to evaluate characteristics of the subjects and their cells in order to develop new strategies of therapy.

Study Design

Observational Model: Case-Only, Time Perspective: Prospective

Conditions

Epidermolysis Bullosa Dystrophica

Location

Stanford University School of Medicine
Stanford
California
United States
94305

Status

Recruiting

Source

Stanford University

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:17:45-0400

Clinical Trials [44 Associated Clinical Trials listed on BioPortfolio]

Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited blistering disease caused by the absence of type VII collagen. Patients with RDEB develop large, severely painful b...

A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB)

The purpose of this study is to evaluate the safety of FCX-007, evaluate C7 expression and the presence of anchoring fibrils resulting from FCX-007 and to analyze wound healing as a result...

Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate)

Dystrophic epidermolysis bullosa hereditaria are genodermatosis responsible for formation of cutaneous bullous lesion arising spontaneously or after mechanical trauma. These lesions are d...

Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex

This study evaluates the clinical effect of foot injection of the bacteria protein Botulinum toxin A on plantar pain in patients with EBS (epidermolysis bullosa simplex).

Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita

OBJECTIVES: I. Evaluate immunomodulation with extracorporeal photochemotherapy (ECP) in patients with epidermolysis bullosa acquisita. II. Investigate the effect of ECP on lymphocyte ac...

PubMed Articles [53 Associated PubMed Articles listed on BioPortfolio]

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no...

Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita.

Type VII collagen (COL7), a major component of anchoring fibrils in the epidermal basement membrane zone, has been characterized as a defective protein in dystrophic epidermolysis bullosa and as an au...

A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both.

Cultured allogeneic fibroblast injection versus fibroblasts cultured on amniotic membrane scaffold for dystrophic epidermolysis bullosa treatment.

Different methods of fibroblast application have been examined to treat recessive dystrophic epidermolysis bullosa (RDEB).

Epidermolysis Bullosa Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.

Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in indu...

Medical and Biotech [MESH] Definitions

Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.

Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction.

Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.

Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.

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