Results 11 to 20 of about 25,211 (207)
Dystrophic Epidermolysis Bullosa
Journal of Nepal Medical Association, 2018 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
doaj +5 more sources
Anesthetic consideration in dystrophic epidermolysis bullosa
Saudi Journal of Anaesthesia, 2016 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
doaj +4 more sources
Dystrophic epidermolysis bullosa: a review
Clinical, Cosmetic and Investigational Dermatology, 2015 Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers,
Shinkuma S
openaire +6 more sources
Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect. [PDF]
PLoS ONE, 2013 Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone.
Alexander Nyström +7 more
doaj +3 more sources
Pretibial dystrophic epidermolysis bullosa [PDF]
Anais Brasileiros de Dermatologia, 2017 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
doaj +3 more sources
Dystrophic Epidermolysis Bullosa in Goats
Journal of Comparative Pathology, 2013 Clinical, histopathological and ultrastructural findings of caprine dystrophic epidermolysis bullosa (DEB) with autosomal recessive inheritance are reported. The goats presented with exungulation, erosions, crusts and scars on the skin and ulcers in the oral cavity.
Medeiros, G. X. +7 more
openaire +4 more sources
Dystrophic epidermolysis bullosa in a child
Contemporary Clinical Dentistry, 2012 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
doaj +3 more sources
Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa [PDF]
Anais Brasileiros de Dermatologia, 2013 In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss.
Hiram Larangeira de Almeida Jr. +4 more
doaj +3 more sources
Turkish Journal of Nephrology, 2020 Dystrophic epidermolysis bullosa (DEB) is a rare and severe hereditary dermatosis, associated with collagen VII deficiency. A chronic inflammatory syndrome secondary to recurrent cutaneous infections may be responsible for amyloid deposition in this ...
Dilek Barutçu Ataş +8 more
doaj +2 more sources
Acta Dermato-Venereologica, 2018 Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been ...
Liliana Guerra +6 more
doaj +2 more sources