Results 31 to 40 of about 5,055 (182)

Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Cuperus E, van Geel M, Verhoeven V, Koudijs S, Boerman G, Tjiam A, van der Lugt N, Pasmans S.   +7 more
europepmc   +2 more sources

Hereditary keratoderma. Clinical case: Unna–Toast keratoderma and Buschke–Fischer–Brauer keratoderma

Russian Journal of Skin and Venereal Diseases, 2022
Palmoplantar keratoderma is a heterogeneous group of diseases, both hereditary and acquired, affecting, as a rule, the skin of the palms and soles in the form of focal or diffuse hyperkeratotic layers. Hereditary forms are characterized by a defect in the genes encoding certain structural components of keratinocytes, which leads to the corresponding ...
Olga V. Grabovskaya, Nataliya P. Teplyuk, Yuliya V. Колесова, Dmitriy V. Ignatyev   +3 more
openaire   +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

Safety of Dupilumab and Risk of Cutaneous T‐Cell Lymphoma in Pediatric Patients With Atopic Dermatitis: A Data‐Driven Guide to Counseling Patients and Families

Pediatric Dermatology, EarlyView.
ABSTRACT Recent publications reporting increased cutaneous T‐cell lymphoma (CTCL) risk with dupilumab in atopic dermatitis (AD) have sparked debate, amplified by media coverage linking dupilumab to lymphoma. These concerns have reached pediatric populations, where we observe increasing parental hesitancy about initiating dupilumab for their children ...
Maria Gnarra Buethe, Tyler Sy, Lawrence F. Eichenfield   +2 more
wiley   +1 more source

Autoantibodies in Patients With Arrhythmogenic Cardiomyopathy Activate GSK‐3β, Resulting in a Loss of Cardiomyocyte Cohesion

Acta Physiologica, Volume 242, Issue 7, July 2026.
ABSTRACT Background Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac desmosome disease, as more than 50% of affected patients carry pathogenic variants in desmosome protein‐coding genes. In this study, we focused on the role and mechanisms of pathogenic and non‐pathogenic autoantibodies against intercalated disc (ICD) proteins such as ...
Soumyata Pathak, Konstanze Stangner, Ellen Kempf, Sina Moztarzadeh, Matthias Hiermaier, Stephanie Wider, Marlene Rauschmayer, Tatjana Williams, Andreas Stengl, Brenda Gerull, Ruth Biller, Sebastian Clauss, Stefan Kääb, Tomo Šarić, Sunil Yeruva, Jens Waschke   +15 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

Papillon-Lefevre syndrome

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Papillon-Lefevre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent ...
S Sujatha, Namita Raghav
doaj   +1 more source

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

Acute pityriasis rubra pilaris triggered by COVID‐19

JEADV Clinical Practice
Pityriasis rubra pilaris (PRP) can be triggered by viruses, such as cytomegalovirus, Epstein‐Barr virus, varicella zoster, human immunodeficiency virus and, more exceptionally, SARS‐CoV‐2. We report an additional case of PRP following COVID‐19 infection.
Diego Soto‐García, Marcos Oro‐Ayude, Carlos Álvarez, Sandra Martínez‐Fernandez, Carmen Couselo‐Rodríguez, Ángeles Flórez   +5 more
doaj   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source