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Patient Reported Outcomes and Quality of Life in Recessive Dystrophic Epidermolysis Bullosa: A Global Cross-sectional Survey.

08:00 EDT 18th March 2020 | BioPortfolio

Summary of "Patient Reported Outcomes and Quality of Life in Recessive Dystrophic Epidermolysis Bullosa: A Global Cross-sectional Survey."

A spectrum of skin disease severity exists in patients with recessive dystrophic epidermolysis bullosa (RDEB).

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This article was published in the following journal.

Name: Journal of the American Academy of Dermatology
ISSN: 1097-6787
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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.

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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.

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