Results 71 to 80 of about 81,034 (193)

EPIDERMOLYSIS BULLOSA HEREDITARIA: A DERMATOLOGIST‘S PERSPECTIVE AND NEWLY TREATMENT APPROACHES

Slovenska pediatrija
Epidermolysis bullosa is a genetically inherited disorder characterized by extreme skin fragility. Mutations in at least 20 different genes have been identified, leading to structural or functional abnormalities or the absence of proteins involved in the
Olga Točkova
doaj   +1 more source

Epidermolysis Bullosa Classification and Current Approach to Diagnosis

Pediatric Dermatology, Volume 43, Issue S2, Page 5-15, August 2026.
ABSTRACT Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin.
Hannah E. Mumber, Marissa J. Perman
wiley   +1 more source

Novel K5 and K14 Mutations in German Patients with the Weber–Cockayne Variant of Epidermolysis Bullosa Simplex [PDF]

, 1998
We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber–Cockayne (MIM# 131800).
Müller, Felix B., Korge, Bernhard P., Bruckner-Tuderman, Leena, Küster, Wolfgang   +3 more
core   +1 more source

In This Issue: The Complexities of Epidermolysis Bullosa “Simplex” [PDF]

Journal of Investigative Dermatology, 2004
Epidermolysis bullosa simplex (EBS) is a usually autosomal dominant disorder that results from mutations in the genes that encode keratin 5 (KRT5) and keratin 14 (KRT14). The severity of EBS may range from generalized blistering to localized acral blistering; generalized involvement is often associated with mucosal blistering, particularly involving ...
openaire   +2 more sources

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin [PDF]

, 2003
Genetic mutations in plectin, a cytoskeleton linker protein expressed in a large variety of tissues including skin, muscle, and nerves, cause epidermolysis bullosa simplex with muscular dystrophy, a recessive inherited disease characterized by blistering
Ortonne, Jean-Paul, Meneguzzi, Guerrino, Bonduelle, Maryse, De Raeve, Linda, Gagnoux-palacios, Laurent, Charlesworth, Alexandra   +5 more
core   +1 more source

Update on Approved Therapies for Dystrophic and Junctional Epidermolysis Bullosa

Pediatric Dermatology, Volume 43, Issue S2, Page 20-28, August 2026.
ABSTRACT Dystrophic epidermolysis bullosa (DEB) and junctional EB (JEB) are severe, bullous genodermatoses induced by mutations of genes encoding structural skin proteins that disrupt epidermal adhesion. Until recently, treatment was limited to symptomatic care. Since 2022, three therapies – birch triterpenes gel (Filsuvez), beremagene geperpavec‐svdt (
Alberto Pappalardo, Edward Eid, Rebecca C. Olsen, Savannah E. Bush, Lawrence F. Eichenfield, Maria Gnarra Buethe   +5 more
wiley   +1 more source

Gelatinase Expression in Generalized Epidermolysis Bullosa Simplex Fibroblasts [PDF]

, 1986
The use of gelatinase expression in dermal fibroblast cultures as a marker for generalized epidermolysis bullosa simplex (D-EBS-Köbner) has been tested.
Winberg, Jan-Olof, Gedde-dahl, Tobias
core   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

CASE STUDY: EPIDERMOLYSIS BULLOSA

, 2019
Epidermolysis Bullosa is a group of rare genetic skin conditions, which is characterized by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma.
Noman Amanat, Muhammad Afzal, Ms. Hajra sarwar
core   +1 more source