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OBJECTIVES: I. Develop a large roster of well-characterized patients with various forms of inherited and acquired epidermolysis bullosa (EB).
II. Generate a large data bank of clinical, historical, and genetic information concerning these patients.
IV. Promote and facilitate research in EB.
PROTOCOL OUTLINE: Patients are enrolled by mail or clinic visit at 1 of 4 clinical centers. Clinical, epidemiological, and laboratory data are collected.
Medical and family histories are obtained in a detailed interview in person, by phone, or by mail. Diagnostic studies to confirm the type of epidermolysis bullosa are performed as indicated. A pedigree chart is completed on the first affected family member entered.
Selected patients are followed at least biannually. A study duration of approximately 10 years is anticipated.
Observational Model: Natural History, Time Perspective: Longitudinal
Office of Rare Diseases (ORD)
Published on BioPortfolio: 2014-08-27T03:58:12-0400
OBJECTIVES: I. Evaluate immunomodulation with extracorporeal photochemotherapy (ECP) in patients with epidermolysis bullosa acquisita. II. Investigate the effect of ECP on lymphocyte ac...
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).
The purpose of this study is to investigate a treatment to enhance the healing of acute and chronic nonhealing cutaneous wounds, such as the erosions experienced by patients with Epidermol...
This is a phase I open-label study to evaluate the safety of ALLO-ASC-DFU in patients with Dystrophic Epidermolysis Bullosa.
OBJECTIVES: I. Determine the safety of isotretinoin in patients with recessive dystrophic epidermolysis bullosa.
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...
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...
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.
Different methods of fibroblast application have been examined to treat recessive dystrophic epidermolysis bullosa (RDEB).
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...
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 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.
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.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...