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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 [54 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...

Topical QR-313 in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Due to Mutation(s) in Exon 73 of the COL7A1gene

A double-blind, randomized, intra-subject placebo-controlled, multicenter, multiple dose study, evaluating safety, proof of mechanism, preliminary efficacy and systemic exposure in subject...

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 [39 Associated PubMed Articles listed on BioPortfolio]

Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study.

Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or recessive dystrophic epidermolysis bullosa (DEB), associated with skin fragility and nail dysplasia. ACC in DEB is thought to be...

Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.

Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa s...

Epidermolysis bullosa: management complexities for paediatric patients.

The genetic skin condition, epidermolysis bullosa (EB) causes the skin to be fragile and blister. As a result, blisters need to be lanced and the skin needs to be dressed with specialist dressings for...

(Invited thematic article) Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An Evidence Based Review.

Osteopenia and osteoporosis are one of the many comorbidities in patients with Epidermolysis Bullosa (EB). Current literature on the prevalence of osteoporosis in EB is scarce.

Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by Apremilast treatment.

Epidermolysis bullosa simplex generalized severe is a genetic disorder caused by mutation in KRT5 or KRT14 genes. Usually considered as a mechanical disease, recent data argue for additional inflammat...

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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