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
openaire +4 more sources
Epidermolysis bullosa acquisita treated with ustekinumab: A case report
SAGE Open Medical Case Reports, 2022 Epidermolysis bullosa acquisita is a rare autoimmune disease involving cutaneous blistering and scarring associated with collagen VII autoantibodies.
Connor Prosty +4 more
doaj +1 more source
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
doaj +1 more source
Correlation between nutritional, hematological and infectious characteristics and classification of the type of epidermolysis bullosa of patients assisted at the Dermatology Clinic of the Hospital Universitário de Brasília [PDF]
Anais Brasileiros de Dermatologia, 2015 : Epidermolysis bullosa comprises a group of phenotypically different genodermatosis, hereditary or acquired, characterized by skin fragility and subsequent formation of blisters in response to mechanical trauma, and which may also affect mucous ...
Márcia Carolline dos Santos Sousa +3 more
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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
doaj +1 more source
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy [PDF]
, 2018 Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in ...
Abiri, Maryam +15 more
core +1 more source
Dermatofibrosarcoma protuberans in a young patient with epidermolysis bullosa: a case report
BMC Surgery, 2021 Background Epidermolysis bullosa is a group of rare inherited skin diseases characterized by blister formation following mechanical skin trauma. Epidermolysis bullosa is associated with increased skin cancer rates, predominantly squamous cell carcinomas,
B. Bonaventura +4 more
doaj +1 more source
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications [PDF]
, 2017 Purpose: Epidermolysis bullosa (EB), the prototype of heritable blistering diseases, is caused by mutations in as many as 19 distinct genes. In this study, we evaluated the molecular basis of EB in 93 families, many of them of unknown subtype. Methods:
Abiri, Maryam +15 more
core +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Deficient skin proteins rescue of expression in patients with epidermolysis bullosa: efficacy of gentamicin [PDF]
Vestnik Dermatologii i VenerologiiEpidermolysis bullosa is a group of rare hereditary skin diseases based on mutations in the genes of structural proteins of the epidermis and the dermal-epidermal junction.
Olga G. Artamonova +4 more
doaj +1 more source