Results 21 to 30 of about 919,358 (274)

Epidermolysis Bullosa in Newborn: A Rare Case with Management Dilemmas [PDF]

Journal of Clinical and Diagnostic Research, 2020
Epidermolysis Bullosa (EB) is a rare genetic and connective tissue disorder affecting 1 in every 50000 live birth that causes skin to be very fragile and blister easily.
Ekta Kale, Sumita Mehta, Tarun Kumar
doaj   +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

Chemical chaperone therapy, a new strategy for genetic skin fragility disorders [PDF]

Experimental Dermatology, 2016
Imtiaz A Siddiqui, Jean Christopher Chamcheu, Hasan Mukhtar   +2 more
exaly   +2 more sources

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

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

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

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

Preferred skin colour reproduction [PDF]

, 2011
The memory colour reproduction is an important factor in judging image quality of photographic images of real life scenes. As the most important memory colour category, skin tone was extensively studied for preferred colour reproduction in this research.
Zeng, Huanzhao
core   +6 more sources

Collagen and skin: from the structure to scientific evidence of oral supplementation [PDF]

Surgical & Cosmetic Dermatology, 2022
In the aging process, the intracellular routes that regulate collagen homeostasis are influenced by the exposome, resulting in its degradation and decreased synthesis, leading to sagging skin. Current evidence indicates that oral
Francine Papaiordanou, Gabriela Pacheco de-Oliveira, Doris Hexsel, Antonio Carlos Amedeo Vattimo   +3 more
doaj   +1 more source