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Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1.
Randhir Sagar Yadav +4 more
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Pretibial dystrophic epidermolysis bullosa [PDF]
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main ...
Elisabeth de Albuquerque Cavalcanti Callegaro +3 more
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Dystrophic epidermolysis bullosa in a child
Epidermolysis Bullosa (EB) is a form of severe skin adhesion defect due to the disruption of the dermal- epidermal junction. It is classified into simplex and dystrophic forms depending on the level at which the junction is compromised.
Uma Eswara
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Anesthetic consideration in dystrophic epidermolysis bullosa
Epidermolysis bullosa is a group of inherited rare skin disease, characterized by bullae formation in the skin or mucous membranes. The fundamental abnormality is collagen degeneration leads to splitting of various epidermal layers.
A S Narejo +3 more
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Dystrophic epidermolysis bullosa: a review
Satoru Shinkuma Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan Abstract: Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII ...
Shinkuma S
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Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma.
Luiza Monteavaro Mariath +3 more
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Comparative scanning electron microscopy of bullous diseases [PDF]
The purpose of this study is to compare scanning electron microscopy findings of the blister roof in three distinct bullous diseases: one intraepidermal acantholytic (pemphigus foliaceus); one due to hemidesmosomal dysfunction (bullous pemphigoid); and ...
Hiram Larangeira de Almeida Jr +4 more
doaj +2 more sources
Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of
Monica-Cristina Pânzaru +4 more
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Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10–25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing.
Yueqian Yu +8 more
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Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report [PDF]
Epidermolysis bullosa is a group of hereditary mechanobullous disorders which are associated with appearance of bullae secondary to physical stress like heat or mechanical trauma or sometimes without any trigger.
Pratima Bisen +4 more
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