Results 21 to 30 of about 27,311 (150)

Severe generalized junctional epidermolysis bullosa in a newborn

GAIMS Journal of Medical Sciences, 2021
Epidermolysis Bullosa (EB) is a group of inherited skin fragility disorders. It characteristically presents as blisters formation over skin and mucosa. Epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa ...
Rekha Thaddanee, Kinjal Patel, Aishwarya Ramani   +2 more
doaj   +1 more source

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, Juliana Tosetto Santin, Lavínia Schuler-Faccini, Ana Elisa Kiszewski   +3 more
doaj   +1 more source

Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Epidermolysis bullosa is a group of hereditary mechanobullous disorders which are associated with appearance of bullae secondary to physical stress like heat or mechanical trauma or sometimes without any trigger.
Pratima Bisen, Sumeet Baheti, Amol Nagre, Chitra Nayak, Poonam Wade   +4 more
doaj   +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, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum [PDF]

PLoS ONE, 2023
Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg   +9 more
doaj   +2 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, Lavinia Caba, Laura Florea, Elena Emanuela Braha, Eusebiu Vlad Gorduza   +4 more
doaj   +1 more source

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa [PDF]

Oral Diseases
Marco Cornejo, Francis Palisson, Sebastián Véliz   +2 more
exaly   +2 more sources

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

Transgenic epidermal cultures for junctional epidermolysis bullosa — 5-year outcomes

, 2021
Inherited junctional epidermolysis bullosa is a severe genetic skin disease that leads to epidermal loss caused by structural and mechanical fragility of the integuments. There is no established cure for junctional epidermolysis bullosa.
Rothoeft T., Seconetti A. S., Losi L., Hirsch T., Metze D., de Rosa L., Yeni B., Kueckelhaus M., Ohmann T., Maier C., de Luca M., Eitner L.   +11 more
core   +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