Results 51 to 60 of about 6,899 (169)
Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report
Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan +2 more
doaj +1 more source
AP‐1B Controls Several Levels of Cell Proliferation and Differentiation in Mouse Enteroids
We show that in mouse intestinal organoids, AP‐1B is implicated in apical polarity, differentiation in the secretory lineage and proliferation. In particular, we propose that proliferation is controlled by AP‐1B via the mTOR and YAP pathways. Arrows show the functional links that were elucidated in this study, and dotted lines show putative downstream ...
Maela Duclos +5 more
wiley +1 more source
A Rare Case on Capecitabine Induced Acquired Palmoplantar Keratoderma
Laila Tsaqilah,1 Keshia Amalia Mivina Mudia,1 Hermin Aminah Usman,2 Hartati Purbo Dharmadji,1 Risa Miliawati Nurul Hidayah,1 Erda Avriyanti1 1Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran–Dr.
Tsaqilah L +5 more
core
Systematic review (51 studies; 547 patients) indicates dupilumab may unmask/worsen CTCL (mainly MF/SS). A French Delphi consensus recommends rigorous diagnostic workup, avoiding dupilumab in confirmed CTCL, discontinuing upon diagnosis, and favouring methotrexate or phototherapy.
Florent Amatore +8 more
wiley +1 more source
A Case Report of Ichthyosis Lamellar Syndrome
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi +2 more
doaj
As queratodermias palmo-plantares familiares são doenças pouco comuns. As manifestações clínicas são variadas e exuberantes, atraindo a atenção dos dermatologistas.
Alexandre Bortoli Machado +4 more
doaj +1 more source
Palmo-plantar keratoderma with debilitating pruritus
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 +2 more
doaj +1 more source
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 +15 more
wiley +1 more source
Plantar keratoderma of Sézary syndrome [PDF]
Sézary syndrome is an extremely rare form of cutaneous T-cell lymphoma. It presents suddenly and is associated with a poor prognosis. Clinical recognition is crucial for the diagnostic process and initiation of appropriate treatment.
Fragkos, KC
core +1 more source
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 +5 more
doaj +1 more source

