Journal of Dermatological Treatment, 2023 Inherited epidermolysis bullosa is a heterogeneous group of hereditary skin diseases characterized by skin (mucosa) fragility, which leads to blistering.
Li Zhang +3 more
doaj +1 more source
Journal of the European Academy of Dermatology and Venereology, 2021 Epidermolysis bullosa (EB) is a group of genodermatoses characterized by generalized blisters from mutations in the genes encoding the basement membrane zone (BMZ) proteins.1 The infusion of allogeneic cells such as mesenchymal stem/stromal cells (MSCs),
Y. Fujita +12 more
semanticscholar +1 more source
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
Epidermolysis bullosa pruriginosa responding to dupilumab
JAAD Case Reports, 2021 EB: epidermolysis bullosa EBP: epidermolysis bullosa pruriginosa IL: interleukin INTRODUCTION Epidermolysis bullosa (EB) is a group of rare, inherited blistering disorders characterized by deficient dermoepidermal cohesion, resulting in fragile, easily ...
R. C. Clawson +2 more
semanticscholar +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
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
Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers
Frontiers in Genetics, 2021 The phenotypic presentation of monogenetic diseases is determined not only by the nature of the causative mutations but also is influenced by manifold cellular, microenvironmental, and external factors.
A. Nyström +2 more
semanticscholar +1 more source
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]
, 2017 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam +11 more
core +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
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