Results 1 to 10 of about 3,317 (133)

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.
Zhenzhen Wu
exaly   +4 more sources

Trophoblast Extracellular Vesicles Rewire Immunity: A Symptom-Relief Avenue for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

J Extracell Vesicles
First‐trimester trophoblast EVs are enriched in anti‐inflammatory proteins, lipids, and immunoregulatory miRNAs. EVT‐EVs reprogram monocytes toward a pro‐resolving phenotype and restore immune homeostasis in RDEB, supporting their potential as offering a scalable off‐the‐shelf therapy for chronic inflammatory diseases.
Hirt N, Manchon E, Wu M, Buanec HL, Bataille P, Bourrat E, Bouaziz JD, Jabrane-Ferrat N, Al-Daccak R.   +8 more
europepmc   +2 more sources

Contribution of HMGB1 to keratinocyte inflammation in recessive dystrophic epidermolysis bullosa [PDF]

JID Innovations
Recessive dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin, blistering, and chronic wounds. Keratinocytes, the primary cells in the epidermis, are directly affected by persistent injury in recessive dystrophic ...
Kacey Guenther Bui, Ya-Chu Chang, Wannasiri Chiraphapphaiboon, Jianfeng Wang, Christen L. Ebens, Jakub Tolar, Anja-Katrin Bielinsky, Hai Dang Nguyen   +7 more
doaj   +2 more sources

Gene Therapy for Dystrophic Epidermolysis Bullosa. [PDF]

Exp Dermatol
ABSTRACT Dystrophic epidermolysis bullosa (DEB) is a rare, debilitating genodermatosis caused by loss‐of‐function variants in COL7A1, resulting in type VII collagen (C7) deficiency and defective anchoring fibrils, which are essential for dermal–epidermal adhesion.
Has C, Karakioulaki M.
europepmc   +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