Results 91 to 100 of about 2,763 (196)

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

Epidermolysis Bullosa - A Report Of Two Cases

, 2002
Epidermolysis bullosa is a group of rare dermal diseases characterized by hereditary and nonhereditary vesicular disorders of skin and mucous membranes that result from trauma or heat.
master administrator
core  

Generalized atrophic benign epidermolysis bullosa - Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency

, 1996
Background: Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia ...
GeddeDahl, T, Kuster, W, Owaribe, K, Meurer, M, Heeres, K, Sonnenberg, A, Jonkman, MF, DeJong, MCJM, BrucknerTuderman, L, Steijlen, PM   +9 more
core   +1 more source

Identification of a Homozygous One-Basepair Deletion in Exon 14 of the LAMB3 in a Patient with Herlitz Junctional Epidermolysis Bullosa and Prenatal Diagnosis in a Family at Risk for Recurrence

, 1995
Herlitz junctional epidermolysis bullosa, a severe epidermal blistering disorder, is inherited in an autosomal recessive manner. It has recently been shown that, in kindreds with junctional epidermolysis bullosa, the disorder results from mutations in ...
Vailly, Joëlle, Christiano, Angela M., Ortonne, Jean-Paul, Meneguzzi, Guerrino, Uitto, Jouni, Burgeson, Robert E., Gerecke, Donald, Miquel, Corinne, Pulkkinen, Leena   +8 more
core   +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

Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation

Read-through therapy suppresses premature termination codons and induces read-through activity, consequently restoring missing proteins. Aminoglycosides are widely studied as read-through drugs in different human genetic disorders, including hereditary ...
Has, Cristina, Sayar, Saliha Beyza
core   +1 more source

Epidermolysis bullosa, skin and mucosa care. Recommendations for patients

, 2022
MedicīnaVeselības aprūpeMedicineHealth CareBullozā epidermolīze (Epidermolysis bullosa) ir grupa retu (prevelence ir 1-9 gadījumi uz 1 000 000 jaundzimušo), klīniski un ģenētiski heterogēnu, iedzimtu ādas slimību, kas raksturojas ar ādas strukturālām ...
Diāna Simsone
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ISEV2026 Abstract Book

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

Epidermolysis bullosa simplex: A case report

, 2012
Epidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion. It consists of a group of conditions that cause the skin to be fragile and blister easily.
Omene, J, Akinbami, FO, Kunle-Olowu, OE, Peterside, O, Adeyemi, OO   +4 more
core   +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