Results 81 to 90 of about 13,589 (213)

Junctional epidermolysis bullosa, non-Herlitz type

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018
La epidermólisis ampollosa de las uniones (JEB, por sus siglas en inglés) es una enfermedad ampollosa de la piel hereditaria de forma recesiva y es causada por anomalías en las proteínas que retienen las capas de la piel. Herlitz JEB es la forma severa y no Herlitz JEB es la forma más leve.
Munir Ahmad Bhinder, Muhammad Arshad, Muhammad Yasir Zahoor, Wasim Shehzad, Muhammad Tariq, Muhammad Imran Shabbir   +5 more
openaire   +2 more sources

Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.

Acta Dermato-Venereologica, 2016
Mutations in the laminin-332 (α3Aβ3γ2) genes cause junctional epidermolysis bullosa (JEB), a recessively inherited disease characterized by blistering and altered wound repair.
M. El Hachem, P. Fortugno, Antonio Palmeri, M. H. Citterich, A. Diociaiuti, V. Proto, R. Boldrini, G. Zambruno, D. Castiglia   +8 more
semanticscholar   +1 more source

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)

The Turkish Journal of Pediatrics, 2015
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal ...
Mehmet Mutlu, Ersan Kalay, Beril Dilber, Yakup Aslan, Embiya Dilber, Nour Almaani, John A Mcgrath   +6 more
doaj  

Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

Dental Research Journal, 2013
Epidermolysis bullosa (EB) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia.
A P Javed, Prashanth Shenai, Laxmikanth Chatra, K M Veena, Prasanna Kumar Rao, Rachana Prabhu   +5 more
doaj   +1 more source

Localized variant of junctional epidermolysis bullosa with R795X mutation

Dermatology Reports
Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked
Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara-Pinton, Simone Caravello, Vincenzo Maione   +7 more
doaj   +1 more source

Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes

JID Innovations
Junctional epidermolysis bullosa caused by loss-of-function variants in genes encoding the skin basement membrane proteins laminin 332, type XVII collagen, or integrin α6β4 affects patients from birth with severe blistering, eventually leading to ...
Eleri Mai Jones, Priya Garcha, Monique Aumailley, Edel Anne O’Toole, Emanuel Rognoni, Matthew Caley   +5 more
doaj   +1 more source

Inherited epidermolysis bullosa: Case report of finger localization

Indian Journal of Plastic Surgery, 2012
Inherited epidermolysis bullosa is a rare condition that often present at birth with skin blisters and erosions. They are associated with defective cohesion of the dermis and epidermis. There are 3 principal types: Simple, junctional and dystrophic.
Anne- Aurore Sankale, Ndeye Coulibaly, Lamine Ndiaye, Hugues Tiemdjo   +3 more
doaj   +1 more source

Junctional and Dystrophic Epidermolysis Bullosa

, 2013
Epidermolysis bullosa (EB) is a congenital genodermatosis, which affects mainly skin and occasionally other organs [1]. Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1]. The most common cause of death is metastasizing squamous cell carcinoma [2].
Daisuke Tsuruta, Chiharu Tateishi, Masamitsu Ishii   +2 more
openaire   +2 more sources

Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

Anais Brasileiros de Dermatologia, 2002
O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5) e 14 (
Hiram Larangeira de Almeida Jr
doaj   +1 more source

Prevalence of anemia in patients with epidermolysis bullosa registered in Australia

International Journal of Women's Dermatology, 2015
Background: Anemia is a common complication of epidermolysis bullosa (EB). To date, no extensive data on the prevalence of anemia in EB patients have been well characterized worldwide.
Shelley Ji Eun Hwang, BSc(Med), MBBS(Hons), Benjamin S. Daniel, BA, BCom, MBBS, MMed (Clin Epi), Bonnie Fergie, MBBS, Jessica Davey, Dédée F. Murrell, MA, BMBCh, MD, FACD, FRCP(Edin)   +4 more
doaj   +1 more source