Results 31 to 40 of about 2,720 (173)

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Dupilumab in Paediatric Netherton Syndrome: Two Case Reports and a Review of the Literature

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Netherton Syndrome (NS) is a rare genodermatosis characterised by a triad of ichthyosiform erythroderma, an atopic diathesis, and trichorrhexis invaginata, for which no effective management is currently approved in Australia. Dupilumab has demonstrated considerable effectiveness in the treatment of atopic conditions in the paediatric ...
Jacqueline Tu, Paul Sun Woo Kim, Kelvin Truong, Gloria Fong, William Luu, Li‐Chuen Wong   +5 more
wiley   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, EarlyView.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 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

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

Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes

Biomedicines, 2022
Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease ...
Peter C. van den Akker, Maria C. Bolling, Anna M. G. Pasmooij   +2 more
doaj   +1 more source

Cellularized Skin Substitute Bioengineering for Regenerative Medicine: Cell Sources, Culture Strategies, and Transition Toward Defined, Xeno‐Free Culture Systems

Advanced Healthcare Materials, Volume 15, Issue 34, 11 September 2026.
Advances in cell sources, bioengineering, and manufacturing are reshaping the design of skin substitutes. This review highlights emerging strategies driving skin tissue engineering and discusses their potential to enable safer, reproducible, and clinically accessible skin substitutes for regenerative medicine.
Gilles Lemaître, Marina Trouillas, Tatiana Vinasco‐Sandoval, Cécile Giordano, Alexandre G. Lellouch, Walid Rachidi, Jean‐Jacques Lataillade, Nicolas O. Fortunel   +7 more
wiley   +1 more source

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

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

Pediatric Dermatology, Volume 43, Issue 5, Page 1111-1119, September/October 2026.
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

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