Results 31 to 40 of about 9,963 (189)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

A very rare localization of a rare disease: palmar lichen nitidus

Anais Brasileiros de Dermatologia, 2022
Lichen nitidus is an uncommon lichenoid dermatosis that could be defined as multiple, separated, shiny, pinpoint, pale to skin-colored papules. Palmoplantar lichen nitidus is a quite rare variant of lichen nitidus.
İrem Nur Durusu, Dilara Güler, Gülhan Gürel, Gülsüm ¸eymaS Yalçın   +3 more
doaj   +1 more source

Mal de Meleda : a case successfully treated with acitretin

PAMJ Clinical Medicine, 2020
Mal de Meleda (MdM) is an autosomal recessive form of palmoplantar keratoderma, that is characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for ...
Kaoutar Achehboune, Hanane Baybay, Sara Elloudi, Fatima Zahra Mernissi   +3 more
doaj   +1 more source

Vohwinkel syndrome: ichthyosiform variant in a family [PDF]

Anais Brasileiros de Dermatologia, 2018
: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr, Juliano Peruzzo, Tania Cestari   +2 more
doaj   +1 more source

The association between skin auto-fluorescence of palmoplantar sites and microvascular complications in Asian patients with type 2 diabetes mellitus

Scientific Reports, 2018
Skin auto-fluorescence (SAF) has generated broad interest about the prospects for non-invasive advanced glycation end product assessment and its direct interplay with the development of microvascular complications, but clinical application of the ...
Jong Jin Kim, Bosu Jeong, Yongin Cho, Mi-hyang Kwon, Yong-ho Lee, Uk Kang, Eun Seok Kang   +6 more
doaj   +1 more source

Integrated Clinical Trial and Molecular Profiling Reveals Immune Drivers of Chronic Hand Eczema

Allergy, EarlyView.
This study performed an unbiased molecular profiling of CHE patients across diverse etiologies to identify shared pathogenic drivers and evaluate the impact of IL‐4Rα blockade via dupilumab over 16 weeks. CHE shows a mixed immune signature involving type 1, 2, and 3 pathways with features of atopic dermatitis and psoriasis.
Perrine Gery, Rüçhan Ekren, Emilie Bérard, Aurélie Du‐Thanh, Hugo Rimet, Fatma Jendoubi, Vanina Lenief, Nadia Raison‐Peyron, Amel Bouznad, Maria P. Konstantinou, Jonathan Rioual, Lilian Basso, Juliette Mouiren, Manon Boussier, Brigitte Milpied, Cristina Bulai Livideanu, Louise Jaulent, Florence Hacard, Marine A. Lefevre, Audrey Nosbaum, Julien Seneschal, Marc Vocanson, Carle Paul, Nicolas Gaudenzio, Marie Tauber, on behalf of the French Atopic Dermatitis Network from de GREAT Research group   +25 more
wiley   +1 more source

A Case Report of Keratoderma and Bilateral Deafness

پزشکی بالینی ابن سینا, 2014
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation ...
Gholamreza Eshghi, Heshmatollah Babaie, Hasan Faghani   +2 more
doaj  

Alitretinoin versus phototherapy as the first-line treatment in adults with severe chronic hand eczema: the ALPHA RCT

Health Technology Assessment
Background Hand eczema is common and a cause of morbidity and occupational disability. When education, irritant/contact allergen avoidance, moisturisation and topical corticosteroids are insufficient to control chronic hand eczema, ultraviolet therapy or
Miriam Wittmann, Isabelle L Smith, Sarah Tess Brown, Anna Berekméri, Armando Vargas-Palacios, Lesley Sunderland, Amy Barker, Fiona Cowdell, Steven Ersser, Rachael Gilberts, Cathy Green, Philip Hampton, Catherine Smith, Jane Nixon   +13 more
doaj   +1 more source

A case report of palmoplantar keratoderma in a 3-year-old girl: A structured approach in primary care settings [PDF]

Malaysian Family Physician
Palmoplantar keratoderma (PPK) is a dermatological disorder characterised by excessive thickening of the palms and soles, encompassing more than 20 conditions.
Asma Amirah Mohd Noor, Azwanis Abdul Hadi, Abdul Rahman Che Abdul Rahim   +2 more
doaj   +1 more source

Epidemiological, Clinical and Allergic Profile of Patients With Dyshidrotic Eczema (Acute and Recurrent Vesicular Dermatitis): Evaluation of the Spanish Registry of Research in Contact Dermatitis and Cutaneous Allergy (REIDAC)

Contact Dermatitis, EarlyView.
In this exploratory analysis, dyshidrotic eczema demonstrated a distinct sensitisation pattern compared with non‐dyshidrotic hand eczema. The lower proportion of clinically relevant reactions amongst positive patch tests suggests a multi‐factorial and not exclusively allergic background.
Araceli Sánchez‐Gilo, Enrique Gómez de la Fuente, Ana M. Giménez‐Arnau, Juan Francisco Silvestre‐Salvador, Pedro Mercader‐García, Tatiana Sanz‐Sánchez, Violeta Zaragoza‐Ninet, Susana Córdoba‐Guijarro, Javier Miquel‐Miquel, Ricardo González‐Pérez, Inmaculada Ruiz‐Gonzalez, Esther Serra‐Baldrich, José Manuel Carrascosa‐Carrillo, Francisco Javier Ortiz de Frutos, Mercedes Rodríguez‐Serna, María Elena Gatica‐Ortega, Carmen Paredes‐Suárez, Francisco J. Navarro‐Triviño, Pablo Chicharro, María Antonia Pastor‐Nieto, Marta Andreu Barasoain, José‐Juan Pereyra‐Rodríguez, Gemma Melé‐Ninot, Paloma Sánchez‐Pedreño Guillén, Marta Elosua‐González, Miguel Ángel Descalzo, Ignacio García‐Doval, Raquel Barba‐Martín, Leopoldo Borrego   +28 more
wiley   +1 more source