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A spectrum of skin disease severity exists in patients with recessive dystrophic epidermolysis bullosa (RDEB).
This article was published in the following journal.
Name: Journal of the American Academy of Dermatology
Epidermolysis bullosa (EB) comprises a group of hereditary disorders characterized by mechanical fragility of the skin and mucous membranes, with the development of blisters and vesicles in response t...
Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to lack of type VII collagen (C7). At present, treatment is mainly supportive.
To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB).
Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated mutations in the COL7A1 gene. Here, we descr...
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin fragility disorder caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the major component of anchori...
This pilot trial studies how rigsertib sodium works in treating patients with Recessive Dystrophic Epidermolysis bullosa (RDEB) with locally advanced Squamous Cell Carcinoma (SCC). Rigoser...
The purpose of this study is to determine whether administration of FCX-007 in addition to standard of care improves wound healing as compared to standard of care alone (control) in childr...
The purpose of this trial is to evaluate safety and efficacy of surgical application of EB-101 (autologous, gene-corrected keratinocyte sheets) as a treatment of recessive dystrophic epide...
The aim of this clinical trial is to investigate the efficacy (by monitoring overall improvement of EB symptoms) and safety (by monitoring adverse events) of three doses of allo-APZ2-EB ad...
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of blistering skin disease caused by mutations in COL7A1 gene. This study aims to assess the safety of intradermal inject...
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.
Assessment of the quality and effectiveness of health care as measured and directly reported by the patient.
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.
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.
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.
Acne Dermatology Eczema Psoriasis Wound Care Dermatology is the medical specialty concerned with the diagnosis and treatment of skin disorders (Oxford Medical Dictionary). As well as studying how the skin works, dermatology covers...