Results 21 to 30 of about 13,589 (213)

Junctional epidermolysis bullosa in a calf [PDF]

Journal of Veterinary Diagnostic Investigation, 2011
A case of epidermolysis bullosa in a calf descendent from a Gir bull and a Gir crossbreed cow is reported. The calf presented with exungulation of all hooves, widespread erosions and crusts on the skin, and ulcers in the oral cavity. Histologically, the skin showed subepidermal separation with clefts occasionally filled with eosinophilic clear fluid ...
Gildenor X, Medeiros, Franklin, Riet-Correa, Anibal G, Armién, Antônio F M, Dantas, Glauco J N, de Galiza, Sara V D, Simões   +5 more
openaire   +2 more sources

Epidermolysis Bullosa, Junctional, with Pyloric Atresia [PDF]

Definitions, 2020
An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia.
openaire   +2 more sources

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, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa

Frontiers in Genetics, 2021
Epidermolysis bullosa (EB) is a group of devastating genetic diseases characterized by skin and mucosal fragility and formation of blisters, which develop either spontaneously or in response to minor mechanical trauma.
L. De Rosa, E. Enzo, Giulia Zardi, C. Bodemer, C. Magnoni, H. Schneider, M. De Luca   +6 more
semanticscholar   +1 more source

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

International Journal of Molecular Sciences, 2021
Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes.
M. Ablinger, Thomas Lettner, N. Friedl, H. Potocki, Theresa Palmetzhofer, U. Koller, J. Illmer, B. Liemberger, S. Hainzl, A. Klausegger, M. Reisenberger, J. Lambert, M. Van Gele, Eline Desmet, Els Van Maelsaeke, M. Wimmer, R. Zauner, J. Bauer, V. Wally   +18 more
semanticscholar   +1 more source

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, Lavinia Caba, Laura Florea, Elena Emanuela Braha, Eusebiu Vlad Gorduza   +4 more
doaj   +1 more source

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

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, Zhenzhen Wang, Zihao Mi, Lele Sun, Xi'an Fu, Gongqi Yu, Zheng Pang, Hong Liu, Furen Zhang   +8 more
doaj   +1 more source

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Genes, 2021
Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous skin fragility disorder frequently caused by mutations in genes encoding the epithelial laminin isoform, laminin-332.
D. Castiglia, P. Fortugno, A. Condorelli, S. Barresi, N. De Luca, S. Pizzi, I. Neri, C. Graziano, D. Trojan, D. Ponzin, S. Rossi, G. Zambruno, M. Tartaglia   +12 more
semanticscholar   +1 more source

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

Frontiers in Genetics, 2021
Background: Epidermolysis bullosa is a rare form of genodermatosis produced by different gene mutations. The junctional form of the disease (JEB-PA) can associate pyloric atresia, renal abnormalities, and aplasia cutis congenita.Case Description: A case ...
Melinda Matyas, Diana Miclea, Gabriela Zaharie   +2 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, D. Kraus, G. B. Stark, H. Fuellgraf, J. Kiefer   +4 more
doaj   +1 more source