Results 21 to 30 of about 25,211 (207)

Dystrophic Epidermolysis bullosa inversa: A Case Report

Dermatologica, 2009
The inverse form of recessive dystrophic epidermolysis bullosa is a rare genodermatosis characterized by a smouldering course of integumental blistering with improvement of lesions in adulthood, preferential localizations of lesions in flexural areas, severe oral and esophageal mucosal involvement and nail dystrophy.
G. F. Altomare, M. Polenghi, P. D. Pigatto, V. Nazzaro, F. Piattoni   +4 more
openaire   +3 more sources

Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families

Diagnostics, 2022
Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin.
Fozia Fozia, Rubina Nazli, May Mohammed Alrashed, Hazem K. Ghneim, Zia Ul Haq, Musarrat Jabeen, Sher Alam Khan, Ijaz Ahmad, Mohammed Bourhia, Mourad A. M. Aboul-Soud   +9 more
doaj   +1 more source

Endothelial dysfunction in patients with various forms of congenital epidermolysis bullosa

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2022
Introduction. The endothelial system is an important component of vascular-platelet hemostasis, capable of actively responding to mechanical and inflammatory agents.
V. I. Kornev, O. N. Startseva, A. S. Pleshkov, M. V. Nikiforov   +3 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

Epidermolysis Bullosa in Calves in the United Kingdom [PDF]

, 2010
Epidermolysis bullosa (EB) was diagnosed in eight calves from four farms in the United Kingdom on the basis of clinical, histological and ultrastructural findings. In three affected herds, pedigree Simmental bulls had been mated with Simmental-cross cows.
Skuse, A.M., Philbey, A W, Higgins, R J, Fraser, M., Thompson, H., Higgins, R.J., Day, M J, Foster, A.P., Higgins, R. J., Fraser, M.A., Day, M.J., Philbey, A. W., Thomson, J., Skuse, A M, Fraser, M A, Philbey, A., Foster, A P, Bowden, P E, Bowden, P.E., Barrett, D. C., Thomson, J. R., Bowden, P. E., Fraser, Mary, Day, M. J., Thomson, J R, Thompson, H, Barrett, D C, Fraser, M. A., Barrett, D.C., Skuse, A. M., Bowden, Paul Edward, Foster, A. P.   +31 more
core   +1 more source

Comparative scanning electron microscopy of bullous diseases [PDF]

Anais Brasileiros de Dermatologia, 2014
The purpose of this study is to compare scanning electron microscopy findings of the blister roof in three distinct bullous diseases: one intraepidermal acantholytic (pemphigus foliaceus); one due to hemidesmosomal dysfunction (bullous pemphigoid); and ...
Hiram Larangeira de Almeida Jr, Gabriela Rossi, Octavio Ruschel Karam, Nara Moreira Rocha, Ricardo Marques e Silva   +4 more
doaj   +2 more sources

Dystrophic Epidermolysis Bullosa Inversa – Case Report and Review of the Literature [PDF]

, 2022
Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifes- tation.
Luzar, Boštjan, Merzel Šabović, Eva Klara, Dolenc-Voljč, Mateja, Wechtersbach, Karmen   +3 more
core   +3 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

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

Natural Gene Therapy in Dystrophic Epidermolysis Bullosa [PDF]

, 2012
Background: Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease distribution.
van den Akker, Peter C., Nijenhuis, Albertine, Pasmooij, Anna M. G., Jonkman, Marcel F., Meijer, G., Hofstra, Robert M. W., van den Akker, Peter C.; id_orcid   +6 more
core   +1 more source