Results 61 to 70 of about 9,316 (182)
CASE STUDY: EPIDERMOLYSIS BULLOSA
Epidermolysis Bullosa is a group of rare genetic skin conditions, which is characterized by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma.
Noman Amanat, Muhammad Afzal, Ms. Hajra sarwar
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Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein
Epidermolysis bullosa dystrophica inversa (DEB-I) is a very rare disease characterized by autosomal recessive inheritance that causes blistering and erosions on the trunk and extremities occurring in early infancy with a predilection for flexural and ...
Scheffer, H. +11 more
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Epidermolysis bullosa acquisita
The article describes present-day information on the pathogenesis, clinical picture, treatment and differential diagnostics of epidermolysis bullosa acquisita, an autoimmune skin disease caused by the production of anti-Type VII collagen autoantibodies ...
V. V. Chikin +3 more
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Natural Gene Therapy in Dystrophic Epidermolysis Bullosa [PDF]
Background: Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease distribution.
van den Akker, Peter C. +6 more
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Clinical and electronmicroscopic observation on epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica is rare, congenital scarring disease of the skin, characterized by mechanically inducible subepidermal bullae. The present study was performed to evaluate clinical manifestations and histopathological findings in 10 ...
한혜기.
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Epidermolysis Bullosa Pruriginosa Masquerading as Psychogenic Pruritus
Background: Epidermolysis bullosa pruriginosa is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by intense pruritus, secondary scratching-induced lesions, and pronounced scarring.
Almaani, Noor +5 more
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A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis
Erika Sawka, BS +2 more
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Epider molysis Bullosa Dystrophica in a Chinese Neonate [PDF]
Epidermolysis bullosa dystrophica (EBD) is a rare blistering disease that may present in the neonatal period. Diagnosis is based on clinical symptomatology, histopathology, electromicroscopy and genetic studies. Age of onset, symptomatology and prognosis
N M Luk +5 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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Generalized atrophic benign epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare autosomal recessive variant of junctional epidermolysis bullosa. A typical feature in these patients is the cicatricial alopecia resembling male pattern baldness: in this paper we ...
La Placa M. +3 more
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