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Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]
Anais Brasileiros de Dermatologia, 2020 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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Epidermolysis bullosa acquisita
Anais Brasileiros de Dermatologia, 2022 Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes.
Denise Miyamoto +3 more
semanticscholar +5 more sources
Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
Diagnostics, 2022 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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Acta Dermato-Venereologica, 2021 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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Orphanet Journal of Rare Diseases, 2020 Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Anna L. Bruckner +10 more
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Case Report: Effective treatment of dystrophic epidermolysis bullosa pruriginosa with tofacitinib. [PDF]
Front Med (Lausanne)Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases caused by mutations in structural proteins at the dermal-epidermal junction.
Sun F, Wu Z, Yu Z.
europepmc +2 more sources
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
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Epidermolysis bullosa acquisita [PDF]
Vestnik Dermatologii i Venerologii, 2017 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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Junctional epidermolysis bullosa: genotype-phenotype correlations [PDF]
Vestnik Dermatologii i Venerologii, 2023 Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, COL17A1, ITGA6 and ITGB4 genes. Junctional epidermolysis bullosa is characterized by clinical heterogeneity.
Alexey A. Kubanov +3 more
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Лечащий Врач, 2022 Congenital epidermolysis bullosa refers to orphan (rare – no more than 10 cases per 100,000 population) diseases. In the Russian Federation, its prevalence rate in 2016 was 3,9 per 1 million population. The objective was to study the clinical and genetic
K. M. Gadzhimuradova +3 more
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