Results 111 to 120 of about 36,363 (277)

Junctional Epidermolysis Bullosa

Journal of the Chinese Medical Association, 2006
Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB.
Kao, Chuan-Hong, Chen, Sue-Jen, Hwang, Betau, Yang, An-Hang, Hsu, Chih-Yi, Huang, Cheng-Hung   +5 more
openaire   +2 more sources

Epidermolysis bullosa: Advances in research and treatment

Experimental Dermatology, 2019
Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes.
C. Prodinger, J. Reichelt, J. Bauer, M. Laimer   +3 more
semanticscholar   +1 more source

The puzzling effect of disease severity on quality of life in epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Vinzenz Hübl, Sophie Strobl, Gudrun Salamon, Cristina Has, on behalf of the BUR‐EB Study Group   +4 more
wiley   +1 more source

Design and Validation of a Minimum Dataset for a Self‐Care Mobile Application for Patients With Diabetic Retinopathy: Descriptive‐Validation Study

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aim Diabetic retinopathy is one of the most common microvascular complications of diabetes, with over 100 million people affected worldwide. The development of mobile health applications can play an effective role in managing and monitoring diabetic retinopathy.
Atefeh Paghe, Hossein Valizadeh Laktarashi, Zahra Daeechini, Amir Hossein Daeechini   +3 more
wiley   +1 more source

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

BMC Medical Genomics
Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120).
Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen   +6 more
doaj   +1 more source

استفاده از پردة آمنیون در درمان کنتراکچرهای دست در بیماران مبتلا به اپی‌درمولیزیس بولوزا [PDF]

, 2008
زمینه و هدف: بیماران مبتلا به اپی‌درمولیزیس بولوزا (Epidermolysis Bullsa [EB]) در طول دوران حیات خود با عوارض متعددی مواجه خواهند بود که یکی از این عوارض کنتراکچرهای دست می‌باشد که متأسفـانه تاکنون درمان موفقی نداشته است.
جعفري‌منصوري, مريم, فاطمي, محمدجواد, فرخي, بهزاد, فروتن, سيدكمال   +3 more
core  

Risk of persistent hypogammaglobulinaemia in children with autoimmune bullous dermatoses treated with rituximab

Journal of the European Academy of Dermatology and Venereology, EarlyView.
S. Benkimoun, A. Welfringer‐Morin, V. Barlogis, R. Gravier Dumonceau, E. Bourrat, C. Chiaverini, C. Léauté‐Labrèze, P. Joly, B. Tedbirt, A.‐C. Bursztejn, G. Font, C. Bodemer, M.‐A. Richard, S. Mallet, Groupe Bulles of the French Society of Dermatology; Clinical Research Group of the French Society of Pediatric Dermatology   +14 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

THERAPEUTIC APHERESIS FOR EPIDERMOLYSIS BULLOSA AND SECONDARY THROMBOCYTOSIS IN NORWEGIAN SCABIES: A CASE REPORT

Hematology, Transfusion and Cell Therapy
Introduction: Secondary thrombocytosis is a well-recognized response to chronic inflammation, infections, and systemic disorders, but its association with dermatologic diseases such as Norwegian scabies and epidermolysis bullosa is rare.
Mine Ezgi Payaslı, Gökhan Demirci, Zeliha Yıldız Kandemir, Birol Güvenç   +3 more
doaj   +1 more source

Anaesthetic management of an infant with epidermolysis bullosa undergoing inguinal hernia repair [PDF]

, 2010
Epidermolysis bullosa is a group of inherited disorders characterized by blistering of the skin as a result of minor trauma. We managed an infant with epidermolysis bullosa undergoing inguinal hernia repair.
Khan, Sobia, Siddiqui, Khalid Maudood
core   +1 more source