Results 171 to 180 of about 13,589 (213)

Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa

Journal of dermatology (Print), 2020
1 Goletz S, Hashimoto T, Zillikens D, Schmidt E. Anti-p200 pemphigoid. J Am Acad Dermatol 2014; 71(1): 185–191. 2 Dainichi T, Kurono S, Ohyama B et al. Anti-laminin gamma-1 pemphigoid. Proc Natl Acad Sci U S A 2009; 106: 2800–2805. 3 Commin MH, Schmidt E,
Yue Li, Jinwen Shen, Jianying Liang, Luyao Zheng, Fuying Chen, Z. Yao, Ming Li   +6 more
semanticscholar   +1 more source

Junctional Epidermolysis bullosa with Urethral Stricture

Dermatologica, 2009
We present a case of junctional epidermolysis bullosa (EB) associated with urethral tract involvement. He was a 27-year-old man who had symblepharon of the right eye, hoarseness and urethral stricture in addition to generalized blister formation.
M, Ichiki, M, Kasada, H, Hachisuka, Y, Sasai   +3 more
openaire   +2 more sources

Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin

Dermatology, 2019
Severe generalized junctional epidermolysis bullosa (JEB), a lethal genodermatosis, is mainly caused by premature termination codons (PTCs) in one of the three genes encoding the anchoring protein laminin-332.
J. Hammersen, A. Neuner, F. Wild, H. Schneider   +3 more
semanticscholar   +1 more source

Phenytoin and Junctional Epidermolysis Bullosa

Archives of Dermatology, 1985
To the Editor.— We read with great interest the article by Rogers et al 1 on the use of phenytoin in the treatment of junctional epidermolysis bullosa (JEB). We are in complete agreement with the authors regarding the value of this drug in treating JEB and recessive dystrophic epidermolysis bullosa (RDEB), but we have certain reservations about the ...
M, Armoni, M, Schlesinger, P A, Vardy, A, Metzker   +3 more
openaire   +3 more sources

PRENATAL DIAGNOSIS OF JUNCTIONAL EPIDERMOLYSIS BULLOSA

Lancet, The, 1989
R A J Eady, O M V Schofield, K H Nicolaides   +2 more
exaly   +2 more sources

Junctional epidermolysis bullosa

1990
In 1935, Herlitz [1] recognized the existence of a distinct hereditary blistering disease that was lethal in early infancy. Since then, the ‘hereditary lethal’ form of epidermolysis bullosa (EB) has borne his name, but there was no certain means of delineating Herlitz disease from the more common dystrophic forms, which could be clinically confusing ...
Robin A. J. Eady, Michael J. Tidman
openaire   +1 more source

Development of bullous pemphigoid in junctional epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, 2019
Junctional epidermolysis bullosa, generalized intermediate subtype (JEB-GI), is a heterogeneous group of mild to moderate skin blistering phenotypes caused by mutations in laminin-332 and collagen XVII encoding genes1 .
L. Fania, A. Provini, A. Salemme, J. Sinagra, L. Guerra, C. Mazzanti, B. Didona, D. Castiglia, G. Di Zenzo   +8 more
semanticscholar   +1 more source

Bloodstream Infection in Children With Epidermolysis Bullosa

The Pediatric Infectious Disease Journal, 2023
Background: Epidermolysis bullosa (EB) is frequently complicated by skin infection, which can lead to bacteremia. However, bloodstream infections (BSI) in patients with EB have not been well described. Methods: Retrospective study of BSI in children 0–18
Laura García-Espinosa, Teresa del Rosal, L. Quintana, R. Maseda, C. Grasa, I. Falces-Romero, J. Menéndez-Suso, Isabel Pérez-Conde, A. Méndez-Echevarría, Francisco Javier Aracil Santos, L. A. Alonso, R. D. de Lucas, C. Calvo, F. Baquero-Artigao   +13 more
semanticscholar   +1 more source

Palliative Sedation with Oral Medicines in an Infant with Generalized Severe Junctional Epidermolysis Bullosa

Journal of Palliative Medicine, 2018
Generalized severe junctional epidermolysis bullosa is a rare mechanobullous skin disorder that is uniformly fatal. We present the case of an infant who received palliative pain management and ultimately proportionate palliative sedation.
Keith P. Pasichow, Meg A. Frizzola, Elissa G. Miller   +2 more
semanticscholar   +1 more source

Non-lethal junctional epidermolysis bullosa in a dog

British Journal of Dermatology, 1997
We report a 4-year-old female mongrel dog with a history since birth of erosions and atrophic skin, with pigmentation and alopecia on the face, trunk and extremities, together with dystrophic nails. Light microscopy revealed subepidermal blisters with minimal inflammation and electron microscopy confirmed that the ultrastructural site of separation ...
M, Nagata, T, Iwasaki, H, Masuda, H, Shimizu   +3 more
openaire   +2 more sources