Results 91 to 100 of about 13,589 (213)

Treatment of Epidermolysis Bullosa and Future Directions: A Review

Dermatologic Therapy
Epidermolysis bullosa (EB) comprises rare genetic disorders characterized by skin and mucosal membrane blistering induced by mechanical trauma. Molecularly, pathogenic variants affect genes encoding proteins crucial for epidermal–dermal adhesion and ...
S. Dănescu, Mircea Negruțiu, C. Has
semanticscholar   +1 more source

Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil

Anais Brasileiros de Dermatologia
Background Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.
Chan I. Thien, Vanessa Rolim Bessa, Isadora Zago Miotto, Luciana Paula Samorano, Maria Cecília Rivitti-Machado, Zilda Najjar Prado de Oliveira   +5 more
doaj   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

Italian Journal of Pediatrics
Background Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma.
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni   +9 more
doaj   +1 more source

En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa

JID Innovations
Severe junctional epidermolysis bullosa is a rare genetic, postpartum lethal skin disease, predominantly caused by nonsense/premature termination codon (PTC) sequence variants in LAMB3 gene.
Bjoern Wimmer, Andreas Friedrich, Katharina Poeltner, Genevieve Edobor, Claudia Mosshammer, Gazmend Temaj, Adriana Rathner, Thomas Karl, Jan Krauss, Joerg von Hagen, Christopher Gerner, Michael Breitenbach, Helmut Hintner, Johann W. Bauer, Hannelore Breitenbach-Koller   +14 more
doaj   +1 more source

Issue Information

JEADV Clinical Practice, Volume 5, Issue 2, Page 351-356, June 2026.
wiley   +1 more source

Junctional epidermolysis bullosa

, 2012
“Vlinderkinderen” worden ze genoemd, de patiëntjes met epidermolysis bullosa (EB) met een huid zo teer als de vleugels van een vlinder. Er worden zo’n 25 typen EB onderscheiden, waarvan de oorzaak in één van de 15 betrokken genen kan liggen. Junctionele epidermolysis bullosa (JEB) is een EB type met splijting door de junctionele laag tussen opperhuid ...
openaire   +1 more source

Epidermolysis bullosa simplex: A case report

Nigerian Journal of Paediatrics
Epidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion.1 It consists of a group of conditions that cause the skin to be fragile and blister easily.
Peterside O, Kunle-Olowu OE , Adeyemi OO , Akinbami FO, Omene J   +4 more
doaj  

Epidermolysis bullosa accompanied by long-segment gastric outlet obstruction in a newborn: a report of a rare case. [PDF]

J Surg Case Rep
Al Quran TM, Abdelradi MU, Ragheb S, Al-Darwish AS, Alsutaif TI, Bataineh ZA.   +5 more
europepmc   +1 more source

Clinical and molecular spectrum of inherited epidermolysis bullosa in a Thai cohort: A 12-year retrospective study. [PDF]

JAAD Int
Supsrisunjai C, Tirachaimongkol N, Bunnag T, Sengtae N, Tongsima S, Ngamphiw C, Komkhong W, Kootiratrakarn T, Wessagowit V, Kantaputra P.   +9 more
europepmc   +1 more source