Results 21 to 30 of about 24,173 (249)

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

Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening

Frontiers in Immunology, 2022
Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis bullosa (EB), has been described, but its effects on disease course remain unclear.
Giovanni Di Zenzo, Giovanna Floriddia, Sabrina Rossi, Feliciana Mariotti, Alessia Primerano, Angelo Giuseppe Condorelli, Biagio Didona, Daniele Castiglia   +7 more
doaj   +1 more source

Inherited epidermolysis bullosa: A multisystem disease of skin and mucosae fragility

Indian Journal of Paediatric Dermatology, 2017
Epidermolysis bullosa (EB) is a blistering disorder that can be autosomic or dominantly inherited and has a wide spectrum of clinical presentations. The most recent classification divides EB into four basic subtypes: (1) EB simplex, (2) junctional EB, (3)
Guadalupe Maldonado-Colin, Carolina Hernández-Zepeda, Carola Durán-McKinster, María Teresa García-Romero   +3 more
doaj   +1 more source

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

Animals, 2020
Classical Ehlers–Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility.
Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Cinzia Benazzi, Marilena Bolcato, Cord Drögemüller   +6 more
doaj   +1 more source

Congenital pyloric atresia and epidermolysis bullosa: Report of a rare association

Journal of Indian Association of Pediatric Surgeons, 2021
Pyloric atresia (PA) is an unusual congenital disorder that accounts for about 1% of all intestinal atresia, with an incidence around 1 in 100,000 live births. PA may occur as an isolated disorder or may be associated with epidermolysis bullosa (EB).
Pradyumna Pan
doaj   +1 more source

Familial cutaneous asthenia in a population of mixed-breed domestic cats - a case report [PDF]

Arquivo Brasileiro de Medicina Veterinária e Zootecnia
Cutaneous asthenia, or Ehlers-Danlos syndrome, is a rare disease of domestic animals, especially cats, that culminates in hyperextensibility and fragility of the skin in addition to possible ligament laxity.
H.C.S. Souza, L.N. Nascimento, K.D.G. Ferreira, Y.S.N. Rainha, G.C. Cid, A.J.R. Bendas, M.P.B. Jardim, H.J.M. Souza   +7 more
doaj   +2 more sources

Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disordersResearch in context

EBioMedicine, 2019
Background: Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates.
Marina Spörrer, Ania Prochnicki, Regine C. Tölle, Alexander Nyström, Philipp R. Esser, Melanie Homberg, Ioannis Athanasiou, Eleni Zingkou, Achim Schilling, Richard Gerum, Ingo Thievessen, Lilli Winter, Leena Bruckner-Tuderman, Ben Fabry, Thomas M. Magin, Jörn Dengjel, Rolf Schröder, Dimitra Kiritsi   +17 more
doaj   +1 more source

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

Case Reports in Dermatology, 2012
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility.
Ana Rosa Rincón-Sánchez, Irma Elia Arce, Enrique Alejandro Tostado-Rabago, Alberto Vargas, Luis Alfredo Padilla-Gómez, Alejandro Bolaños, Selenne Barrios-Guyot, Víctor Manuel Anguiano-Alvarez, Víctor Chistian Ledezma-Rodríguez, María Cristina Islas-Carbajal, Ana María Rivas-Estilla, Alfredo Feria-Velasco, Nory Omayra Dávalos   +12 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

Regressing Multiple Viral Plaques and Skin Fragility Syndrome in a Cat Coinfected with FcaPV2 and FcaPV3

Case Reports in Veterinary Medicine, 2015
Feline viral plaques are uncommon skin lesions clinically characterized by multiple, often pigmented, and slightly raised lesions. Numerous reports suggest that papillomaviruses (PVs) are involved in their development.
Alberto Alberti, Gessica Tore, Alessandra Scagliarini, Laura Gallina, Federica Savini, Chiara Caporali, Francesca Abramo   +6 more
doaj   +1 more source