Results 11 to 20 of about 36,363 (277)

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.

New England Journal of Medicine, 2022
BACKGROUND Dystrophic epidermolysis bullosa is a rare genetic blistering skin disease caused by mutations in COL7A1, which encodes type VII collagen (C7).
S. Guide, Mercedes E Gonzalez, I. Bağcı, Brittani A. Agostini, Hubert Chen, G. Feeney, M. Steimer, B. Kapadia, K. Sridhar, Lori Quesada Sanchez, F. González, Matthew Van Ligten, T. Parry, S. Chitra, L. Kammerman, S. Krishnan, M. Marinkovich   +16 more
semanticscholar   +3 more sources

Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa - 5-Year Outcomes.

New England Journal of Medicine, 2021
Inherited junctional epidermolysis bullosa is a severe genetic skin disease that leads to epidermal loss caused by structural and mechanical fragility of the integuments. There is no established cure for junctional epidermolysis bullosa.
M. Kueckelhaus, T. Rothoeft, Laura De Rosa, Burcu Yeni, T. Ohmann, C. Maier, L. Eitner, D. Metze, L. Losi, Alessia Secone Seconetti, Michele De Luca, T. Hirsch   +11 more
semanticscholar   +3 more sources

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial

Nature Medicine, 2022
Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by mutations in COL7A1, the gene encoding the anchoring fibril component, collagen VII (C7).
I. Gurevich, P. Agarwal, PeiPei Zhang, J. Dolorito, Stacie L. Oliver, Henry Liu, N. Reitze, Nikhil Sarma, I. Bağcı, K. Sridhar, Visesha Kakarla, V. Yenamandra, M. O’Malley, M. Prisco, S. Tufa, D. Keene, A. South, S. Krishnan, M. Marinkovich   +18 more
semanticscholar   +1 more source

A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

Orphanet Journal of Rare Diseases, 2021
Background/objective Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies.
Jean Y. Tang, M. Marinkovich, Eleanor Lucas, E. Gorell, A. Chiou, Ying Lu, Jodie Gillon, D. Patel, D. Rudin   +8 more
semanticscholar   +1 more source

Epidemiology of inherited epidermolysis bullosa in Germany

Journal of the European Academy of Dermatology and Venereology, 2022
Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.
C. Has, M. Hess, W. Anemüller, U. Blume-Peytavi, S. Emmert, R. Fölster-Holst, J. Frank, K. Giehl, C. Günther, J. Hammersen, K. Hillmann, B. Höflein, P. Hoeger, A. Hotz, Thuy Anh Mai, V. Oji, H. Schneider, K. Süßmuth, I. Tantcheva‐poór, F. Thielking, B. Zirn, J. Fischer, A. Reimer-Taschenbrecker   +22 more
semanticscholar   +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

The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review

International Journal of Dermatology, 2022
Epidermolysis bullosa (EB) is an inherited genodermatosis that results in mucocutaneous fragility. There is a lack of data on the impact of this disease on parents.
A. Chateau, David Blackbeard, C. Aldous
semanticscholar   +1 more source

Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

Indian Journal of Dermatology, 2022
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS).
Sunitha Tella, Shehnaz Sultana, Sujatha Madireddy, Pratibha Nallari, Venkateshwari Ananthapur   +4 more
doaj   +1 more source

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

British Journal of Dermatology, 2020
Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).
C. Has, J. Bauer, C. Bodemer, M. Bolling, L. Bruckner-Tuderman, A. Diem, J. Fine, A. Heagerty, A. Hovnanian, M. Marinkovich, Anna E. Martinez, J. McGrath, C. Moss, D. Murrell, F. Palisson, A. Schwieger-Briel, E. Sprecher, K. Tamai, J. Uitto, D. Woodley, G. Zambruno, J. Mellerio   +21 more
semanticscholar   +1 more source

Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa

JCI Insight, 2021
BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder that comes about due to a lack of functional type VII collagen, for which no effective therapy exists.
D. Kiritsi, Kathrin Dieter, E. Niebergall-Roth, Silvia Fluhr, Cristina Daniele, Jasmina Esterlechner, Samar Sadeghi, S. Ballikaya, Leoni Erdinger, F. Schauer, S. Gewert, M. Laimer, J. Bauer, A. Hovnanian, G. Zambruno, M. El Hachem, E. Bourrat, M. Papanikolaou, G. Petrof, Sophie Kitzmüller, C. Ebens, M. Frank, N. Frank, C. Ganss, Anna E. Martinez, J. McGrath, J. Tolar, M. Kluth   +27 more
semanticscholar   +1 more source