Results 61 to 70 of about 81,034 (193)

The use of immunofluorescence antigen mapping in the diagnosis of junctional epidermolysis bullosa in a 15-year-old female

Indian Journal of Paediatric Dermatology, 2020
Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, characterized by blistering of the skin and mucosae following mechanical trauma, which includes four major forms (EB simplex, junctional EB [JEB], dystrophic
Ankita Choudhary, Deval Mistry, Rima Joshi, Bela Shah   +3 more
doaj   +1 more source

Long‐Term Efficacy and Safety of Oleogel‐S10 (Birch Triterpenes) for Pediatric Patients With Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Pediatric patients with epidermolysis bullosa (EB) experience lifelong complications, and wound healing is an important treatment goal. In the phase III EASE study (NCT03068780), Oleogel‐S10 accelerated wound healing in EB.
Eli Sprecher, Mauricio Torres‐Pradilla, Maria Florencia Fernandez, Christine Bodemer, Anna L. Bruckner, Silvia Maria de Macedo Barbosa, Andrea Diociaiuti, Anna E. Martinez, Francis Palisson, Miloš Nikolić, Asunción Vicente, Raúl de Lucas, Noemi Toiber Temin, Sandra Löwe, Johannes S. Kern, Dédée F. Murrell, the EASE Study Group   +16 more
wiley   +1 more source

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Sarah Kiener, Ronnie Kaufmann, Ori Brenner, Vidhya Jagannathan, Tosso Leeb   +4 more
wiley   +1 more source

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

The Application of Clinical Genetics, 2021
Sang Trieutien,1,* Tam Vu Van,2,3,* My Tran Ngoc Thao,4 Son Trinh The,5 Khoa Tran Van,1 Tung Nguyen Thanh,5 Tuan Tran Van,5 Hanh Nguyen Thi6 1Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam ...
Trieutien S, Vu Van T, Tran Ngoc Thao M, Trinh The S, Tran Van K, Nguyen Thanh T, Tran Van T, Nguyen Thi H   +7 more
doaj  

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page 1626-1647, October 2026.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature

BMC Pediatrics
Epidermolysis Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB.
Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu   +6 more
doaj   +1 more source

Nail involvement in patients with epidermolysis bullosa: A systematic review

Skin Health and Disease, 2023
Background Nail changes in patients with congenital epidermolysis bullosa (EB) are caused by abnormalities of the nail matrix and bed secondary to pathogenic alterations of the dermoepidermal junction.
Elena Pastrana‐Arellano, Diana Morales‐Olvera, María T. García‐Romero   +2 more
doaj   +1 more source

Rare Coexistence of Familial Laryngo‐Onycho‐Cutaneous Syndrome (LOCS/Shabbir Syndrome) and Epidermolysis Bullosa With Multisystemic Involvement: A Case Series 

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT The coexistence of LOCS and a broader EB phenotype within a single consanguineous family represents a unique instance of intra‐familial phenotypic heterogeneity in LAMA3‐related junctional epidermolysis bullosa. This highlights the importance of recognizing systemic manifestations, including urological and neurological complications, and ...
Zainab Rasheed, Muhammad Rashid, Usman Syed Mahmud, Muhammad Hassaan Javaid, Raghabendra Kumar Mahato, Zubaria Yaqoob   +5 more
wiley   +1 more source

Carcinoembryonic Antigen: Increased Plasma Levels in Recessive Epidermolysis Bullosa [PDF]

, 1979
Circulating plasma levels of the oncofetal antigen, carcinoembryonic antigen, were examined in 18 patients with various forms of epidermolysis bullosa.
Bauer, Eugene A., Cooper, M., Rochman, Hyman, Esterly, Nancy B.   +3 more
core   +1 more source

Gene Therapy for Dystrophic Epidermolysis Bullosa

Experimental Dermatology, Volume 35, Issue 8, August 2026.
ABSTRACT Dystrophic epidermolysis bullosa (DEB) is a rare, debilitating genodermatosis caused by loss‐of‐function variants in COL7A1, resulting in type VII collagen (C7) deficiency and defective anchoring fibrils, which are essential for dermal–epidermal adhesion.
Cristina Has, Meropi Karakioulaki
wiley   +1 more source