Results 61 to 70 of about 4,844,369 (196)

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Treatment of Darier’s disease with oral magnesium: a case report

SAGE Open Medical Case Reports, 2018
Darier’s disease, an autosomal dominant genodermatosis, arises from a mutation in the ATP2A2 gene that codes for sarco/endoplasmic reticulum Ca 2+ -ATPase in the endoplasmic reticulum and is characterized by greasy keratotic papules commonly found in ...
Heidi Oi-Yee Li, Sophia Colantonio, Nordau Kanigsberg   +2 more
doaj   +1 more source

Darier-White disease: A rare genetic disorder [PDF]

JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2018
Background: The clinical manifestation of Darier-White disease, an autosomal dominant genodermatosis, are greasy hyperkeratotic papules in seborrheic regions with nail abnormalities and mucous membrane changes due to a defective sarcoendoplasmic calcium ...
Cara Lynn Marie N. Chia, Ma Teresita G. Gabriel, Leilani R. Senador, Ciara Mae dela Cruz   +3 more
doaj   +1 more source

Molecular Changes Induced by Carbon Dioxide Laser in Hailey‐Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy

International Journal of Dermatology, Volume 65, Issue 4, Page 797-805, April 2026.
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Javier Antoñanzas, Agustín España, Ana Gorostidi, Ana Patiño‐García, Marcos J. Araúzo‐Bravo, Daniela Gerovska, Rafael Salido‐Vallejo, Leyre Aguado‐Gil   +7 more
wiley   +1 more source

Darier disease: A fold (intertriginous) dermatosis

, 2015
Darier disease, also known as Darier-White disease, is characterized by yellow to brown, oily keratotic papules and plaques in the seborrheic areas of the face and chest. This disorder may show different clinical manifestations, such as palmoplantar pits
Engin, Burhan, Tuzun, Yalçın, Erkan, Emine, Kutlubay, Zekayi   +3 more
core   +1 more source

Encorafenib‐associated acantholytic dermatosis in collision with eccrine squamous syringometaplasia

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Francisco Meraz‐Torres, Gabi Handgretinger, Andreas Meiwes, Derya Durak, Joana Schroth, Stephan Forchhammer   +5 more
wiley   +1 more source

Darier-White disease of the vulva. Presentation of a patient

Acta Médica del Centro, 2014
The Darier-White disease is an uncommon genodematoses, the transmisision of autosomal dominant, characterized by lesions involving papulokeratosic mucosal and nails; may appear papules on the vulva, specifically.
Mabel González Escudero, Amelia Betancourt Pérez, Dayren Peraza Cruz   +2 more
doaj  

Dermatology 2.0: Precision medicine for inflammatory skin diseases

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 3, Page 440-445, March 2026.
Digital immune mapping of transcriptomics profiles from inflammatory skin disease biopsies enables precise molecular diagnosis, quantification of immune modules and personalized therapy selection by matching dominant immune signatures to targeted treatments.
Jeremy Di Domizio, Antoine Girardin, Curdin Conrad, Teofila Seremet, Michel Gilliet   +4 more
wiley   +1 more source

‘When diagnostics become prevention’: A patient's perspective on Darier's disease

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Fauve C. A. P. van Veen, Silke M. J. C. J. Koster, Antoni H. Gostyński   +2 more
wiley   +1 more source

Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review

Pediatric Dermatology, Volume 43, Issue 2, Page 411-414, March/April 2026.
ABSTRACT We report an 11‐month‐old boy with diffuse cutaneous mastocytosis whose severe pruritus and steroid dependence resolved following off‐label treatment with omalizumab. A literature review identified five additional pediatric cases in which omalizumab led to complete symptom resolution in an average of 2 months and permitted discontinuation of ...
Janis Chang, Aliyah King, Adam Byrne, Carmen Liy‐Wong   +3 more
wiley   +1 more source