Results 41 to 50 of about 25,211 (207)

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

Acta Dermato-Venereologica, 2020
Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was ...
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz   +14 more
doaj   +1 more source

Photodynamic Therapy for Basal Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa [PDF]

, 2011
A 22-year-old male with recessive dystrophic epidermolysis bullosa with a large superficial and nodular basal cell carcinoma on his right forehead was treated with photodynamic therapy. The treatment was well tolerated, and the site healed well. Patients
Myn Wee Lee, George Varigos, Ross, G, Varigos, G, Peter Foley, Gayle Ross, Lee, MW, Foley, P   +7 more
core   +1 more source

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Einstein (São Paulo)
Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which ...
Denise Maria Christofolini, José Ricardo Magliocco Ceroni, Giovanna Guimarães Soares, Gustavo Bertollini Lamy, Ana Carolina Nemeth Calvo, Tamara Alba dos Santos, Bianca Del Bel Sonoda, Bianca Bianco, Caio Parente Barbosa   +8 more
doaj   +1 more source

Dilated cardiomyopathy in dystrophic epidermolysis bullosa [PDF]

Archives of Disease in Childhood, 2000
Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children.In the past seven years we have routinely screened patients with severe DEB who have been under the care of this hospital by yearly clinical review ...
R U, Sidwell, R, Yates, D, Atherton
openaire   +2 more sources

Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

, 2015
Dystrophic epidermolysis bullosa is an inherited disease presenting with blistering of the skin in the subdermal layer caused by gene COL7A1 mutations. The authors reviewed a case of this disease determined by two mutations: dominant and recessive.
Egle Aukstuoliene, Marius Sukys, Danielius Serapinas   +2 more
core   +1 more source

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

Frontiers in Immunology, 2022
Collagen VII is the main constituent of the anchoring fibrils, important adhesive structures that attach the epidermis to the dermal extracellular matrix.
Franziska Schauer, Alexander Nyström, Manfred Kunz, Stefanie Hübner, Sarah Scholl, Ioannis Athanasiou, Svenja Alter, Judith Fischer, Cristina Has, Dimitra Kiritsi   +9 more
doaj   +1 more source

Genomics and epigenomics of tissue repair: Implications for personalized medicine

Precision Medical Sciences, EarlyView.
Genomic and epigenomic mechanisms govern tissue repair and regeneration through dynamic regulation of inflammation, cell fate, and extracellular matrix remodeling. The integration of multi‐omics, artificial intelligence, and precision regenerative therapies enables biomarker‐driven, personalized approaches to enhance healing and minimize fibrosis ...
Jharna Medhi, Chandrashekar Thalluri, Sarad Pawar Naik Bukke, Piyali Dey, Mallikarjun Vasam, Ananda Kumar Chettupalli, Swetha Kumari Koduru, Gali Avinash Kumar   +7 more
wiley   +1 more source

A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib. [PDF]

Clin Cosmet Investig Dermatol
Shuqin Lai,* Chunli Lin,* Zimeng Guo, Yun Lai, Ling Xie, Chunlei Wan, Tao Yang, Longnian Li Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical
Lai S, Lin C, Guo Z, Lai Y, Xie L, Wan C, Yang T, Li L.   +7 more
europepmc   +2 more sources

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source