Results 21 to 30 of about 21,752 (228)

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]

, 2017
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam, Barzegar, Mohammadreza, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol Mohammad, Mozafari, Nikoo, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +11 more
core   +1 more source

Acute renal failure in a patient with epidermolysis bullosa acquisita [PDF]

Anais Brasileiros de Dermatologia, 2017
: Epidermolysis bullosa acquisita is a severe autoimmune subepidermal bullous disease. In this report, we described for the first time a patient with epidermolysis bullosa acquisita who developed acute renal failure.
Guowei Zhao, Qing Yang, Furen Zhang
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

Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Epidermolysis bullosa is a group of hereditary mechanobullous disorders which are associated with appearance of bullae secondary to physical stress like heat or mechanical trauma or sometimes without any trigger.
Pratima Bisen, Sumeet Baheti, Amol Nagre, Chitra Nayak, Poonam Wade   +4 more
doaj   +1 more source

Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study

Dermatology Research and Practice, 2017
Introduction. Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark.
Agnes Schwieger-Briel, Dimitra Kiritsi, Christoph Schempp, Cristina Has, Hauke Schumann   +4 more
doaj   +1 more source

Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach, [PDF]

Anais Brasileiros de Dermatologia, 2021
Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures.
Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler-Faccini   +5 more
doaj   +1 more source

Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene [PDF]

, 2015
BACKGROUND Heritable forms of epidermolysis bullosa (EB) constitute a heterogeneous group of skin disorders of genetic aetiology that are characterised by skin and mucous membrane blistering and ulceration in response to even minor trauma.
A Capt, A McKenna, A Menoud, A Nakano, A Untergrasser, AP Foster, B Hartwig, BJ Bart, C Baldeschi, C Has, C Mühle, CA Ford, Cord Drögemüller, D Castiglia, D Milenkovic, DF Butler, F Spirito, FB Hadley, FB Hutt, GX Medeiros, H Bassett, H Li, H Schneider, H Stocker, H Thorvaldsdóttir, HW Leipold, I Yeruhama, JD Fine, JD Fine, JS Agerholm, JS Agerholm, Jørgen S Agerholm, KG Thompson, KT Graves, L Bruckner-Tuderman, L Murgiano, L Murgiano, L Murgiano, L Pulkkinen, LD Lieto, Leonardo Murgiano, Louise K Isling, LR Intong, M Aumailley, M Ostmeier, MH Kanzler, MO Benoit-Biancamano, MU Jayasekara, Natalie Wiedemar, OC Straub, P Cingolani, P Deprez, PE Ginn, R Varki, S Dyrendahl, S Mömke, S1 Purcell, T Rausch, Vidhya Jagannathan   +58 more
core   +5 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

The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Orphanet Journal of Rare Diseases, 2020
Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell   +10 more
doaj   +1 more source

Stomatological management and implant‐supported rehabilitation in a patient with recessive dystrophic epidermolysis bullosa

Clinical Case Reports, 2022
Inherited epidermolysis bullosa (EB) is a disease that causes epithelium fragility due to a protein anomaly caused by a genetic mutation. Epidermolysis bullosa clinical manifestations are bullae and cutaneous‐mucosal erosions.
Pierre Mestrallet, Adnane Wardani, Laurence Evrard   +2 more
doaj   +1 more source