Results 41 to 50 of about 5,681 (198)

Effect of Anti‐IL‐23 and Anti‐IL‐17 Therapy on Darier Disease: A Case Series

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Darier disease is a rare ATP2A2‐related genodermatosis for which therapeutic options remain limited, as acitretin is often constrained by toxicity and teratogenicity. In this retrospective real‐world case series of eight patients, anti‐IL‐17 therapy showed a more consistent early signal of clinical benefit than anti‐IL‐23 therapy, with greater
Maione Vincenzo, Zanghi Silvia, Catapano Cecilia, Bighetti Stefano, Cattaneo Isacco, Venturini Marina, Bettolini Luca   +6 more
wiley   +1 more source

[Piebaldisme: a rare genodermatosis].

The Pan African medical journal, 2017
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution.
Fatima Zahra, Debbarh, Fatima Zahra, Mernissi   +1 more
openaire   +2 more sources

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

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

Xeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature

, 2014
Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age ...
S. Hasan, S. Saeed
semanticscholar   +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, EarlyView.
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

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

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

siRNA Silencing of Proteasome Maturation Protein (POMP) Activates the Unfolded Protein Response and Constitutes a Model for KLICK Genodermatosis

PLoS ONE, 2012
Keratosis linearis with ichthyosis congenita and keratoderma (KLICK) is an autosomal recessive skin disorder associated with a single-nucleotide deletion in the 5′untranslated region of the proteasome maturation protein (POMP) gene. The deletion causes a
J. Dahlqvist, H. Törmä, J. Badhai, N. Dahl   +3 more
semanticscholar   +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