Results 71 to 80 of about 8,647 (203)

Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene

Российский кардиологический журнал, 2018
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim, N. G. Danilenko   +5 more
doaj   +1 more source

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]

, 2018
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K., Broers, M. R., Brouns, G. H., Coull, Barry. J., Easton, J. A., Kamps, M. A. F., Martin, P. E., Oji, V., van Geel, M., van Steensel, M. A. M.   +9 more
core   +5 more sources

Kindler Syndrome: A Case Report From a Developing Country

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib, Cyrine Ali Deeb, Tala Dib, Roula Baddour   +3 more
wiley   +1 more source

Keratoderma-Like T-Cell Dyscrasia: A Case Report

Case Reports in Dermatology
Introduction: Cutaneous T-cell dyscrasia (CTCD) encompasses a heterogeneous group of T-cell infiltrates, often clonal and epitheliotropic. While the etiology remains unclear, certain medications, including statins, have been linked to cutaneous T-cell ...
Asem Shadid, Sukaina Al Haddad, Rua’a Alharithy, Tariq J. Al-Zaid   +3 more
doaj   +1 more source

Palmo-plantar keratoderma with debilitating pruritus

Indian Journal of Paediatric Dermatology, 2020
We describe two siblings with diffuse, mutilating palmo-plantar keratoderma suggestive of Olmsted syndrome, with significantly compromised quality of life in the form of inability to walk and grasp objects.
Vandana Kataria, Chander Grover, Deepika Pandhi   +2 more
doaj   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +3 more sources

Palmoplantar keratoderma with keratoconus

Middle East African Journal of Ophthalmology, 2018
Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire   +3 more sources

Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

Pediatric Allergy and Immunology, Volume 36, Issue 11, November 2025.
Abstract Background Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE.
Fabio Cardinale, Ivan Taietti, Mayla Sgrulletti, Lucia Pacillo, Viviana Moschese, Caterina Cancrini, Raffaele Badolato, Michele Miraglia del Giudice, Gian Luigi Marseglia, Elena Chiappini, Riccardo Castagnoli, Primary Atopic Disorders Working Group, on behalf of the Italian Society of Pediatric Allergy and Immunology (SIAIP), Salvatore Barberi, Anna Belloni Fortina, Roberto Berni Canani, Paolo Bottau, Carlo Caffarelli, Mauro Calvani, Antonella Cianferoni, Francesco Cinetto, Bianca Laura Cinicola, Emilia Cirillo, Francesca Conti, Laura Dotta, Marzia Duse, Silvia Federici, Alessandro Fiocchi, Elena Galli, Silvia Giliani, Giuliana Giardino, Cristiana Indolfi, Lucia Leonardi, Amelia Licari, Vassilios Lougaris, Sara Manti, Alberto Martelli, Domenico Minasi, Elio Novembre, Riccardo Papa, Claudio Pignata, Federica Pulvirenti, Maria Sangerardi, Annarosa Soresina, Mariangela Tosca, Alberto Giovanni Ugazio, Anna Maria Zicari   +46 more
wiley   +1 more source

Особенности клинико-морфологических и эндокринных сдвигов у больных климактерической кератодермией [PDF]

, 2017
Цель работы: изучить клинические особенности, гистоморфологическую структуру поражений кожи, а также эндокринологические сдвиги у больных климактерической кератодермий, что позволит расширить познание механизмов развития этого дерматоза.
Сынах, О.К., Федотов, В.П.   +1 more
core  

Classical Juvenile Pityriasis Rubra Pilaris Treated With Secukinumab: Case Report and a Review of Biological Treatments in the Pediatric Population

Pediatric Dermatology, Volume 42, Issue 6, Page 1214-1220, November/December 2025.
ABSTRACT Pityriasis rubra pilaris (PRP) is a rare, chronic papulosquamous disorder with limited treatment options in pediatric patients. We report the case of a 9‐year‐old boy with juvenile PRP (type III), who achieved complete disease remission after treatment with secukinumab, an IL‐17A inhibitor, following initial therapeutic resistance to topical ...
Zeno Fratton, Giuseppe Stinco, Enzo Errichetti   +2 more
wiley   +1 more source