Results 1 to 10 of about 3,106 (137)

Case Report: Effective treatment of dystrophic epidermolysis bullosa pruriginosa with tofacitinib [PDF]

Frontiers in Medicine
Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases caused by mutations in structural proteins at the dermal-epidermal junction.
Fang Sun, Zhenzhen Wu, Zhenze Yu
doaj   +2 more sources

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa [PDF]

BMC Medical Genomics
Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120).
Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen   +6 more
doaj   +2 more sources

Dystrophic epidermolysis bullosa: genotype-phenotype correlations [PDF]

Vestnik Dermatologii i Venerologii, 2023
Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic ...
Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. karamova   +2 more
doaj   +1 more source

Clinical and epidemiological features of congenital epidermolysis bullosa in the Republic of Dagestan

Лечащий Врач, 2022
Congenital epidermolysis bullosa refers to orphan (rare – no more than 10 cases per 100,000 population) diseases. In the Russian Federation, its prevalence rate in 2016 was 3,9 per 1 million population. The objective was to study the clinical and genetic
K. M. Gadzhimuradova, M. A. Ivanova, M. N. Gadzhimuradov, S. N. Alieva   +3 more
doaj   +1 more source

A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab

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, Shangshang Wang, Qinyi Chen, Leihong Xiang   +3 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

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

Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect. [PDF]

PLoS ONE, 2013
Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone.
Alexander Nyström, Jens Buttgereit, Michael Bader, Tatiana Shmidt, Cemil Ozcelik, Ingrid Hausser, Leena Bruckner-Tuderman, Johannes S Kern   +7 more
doaj   +1 more source

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