Results 81 to 90 of about 1,914 (209)

Epidermolytic Hyperkeratosis: Applied Molecular Genetics

Journal of Investigative Dermatology, 1994
Epidermolytic hyperkeratosis is an autosomal dominant ichthyosis characterized by blistering, especially at birth and during childhood, and hyperkeratosis. Epidermolytic hyperkeratosis presents striking clinical heterogeneity, particularly between families.
Moshell, Alan N., DiGiovanna, John J., Bale, Sherri J.   +2 more
openaire   +2 more sources

Heterozygous DSP in‐frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities

Animal Genetics, Volume 55, Issue 5, Page 725-732, October 2024.
Abstract Ichthyoses comprise a large heterogeneous group of skin disorders, characterized by generalized scaly and hyperkeratotic skin. We investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.
Sarah Kiener, Georg Lehner, Vidhya Jagannathan, Monika Welle, Tosso Leeb   +4 more
wiley   +1 more source

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]

, 2015
Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela, Burger, Bettina, De Mesmaeker, Julie, Fischer, Judith, Itin, Peter H., Schlipf, Nina, Spoerri, Iris, Tadini, Gianluca   +7 more
core   +1 more source

X‐linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Sunil Bhatta, Sukriti Pandit, Pratik Chaudhary, Naresh Thapa Chhetri   +3 more
wiley   +1 more source

Keratins in Skin Epidermal Development and Diseases [PDF]

, 2018
Epidermal keratinocyte (KC), the major cell type in the skin epidermis, plays critical roles in forming a permeability barrier to separate internal organs from external stimuli.
Zhang, Ling-juan
core   +2 more sources

Clinical diagnostic matrix (CDM) as a tool to diagnose subtypes of epidermolysis bullosa cases in children [PDF]

, 2019
Background: Epidermolysis bullosa (EB) is a rare genetic skin disease characterized by trauma-induced blisters, which appear shortly after birth. Immunofluorescence antigen mapping and mutational analysis are essential for establishing an accurate ...
Dewi, Susanti Rosmala, Ellistari, Endra Yustin, Julianto, Indah, Marcella, Benazier, Paramitasari, Anggana Rafika, Widhiati, Suci   +5 more
core   +2 more sources

Biologics for inherited disorders of keratinisation: A systematic review

Australasian Journal of Dermatology, Volume 65, Issue 2, Page 185-214, March 2024.
Abstract Background/Objectives Recent literature highlights the potential of biologics in the management of inherited disorders of keratinisation. In this study, we conducted a systematic review of existing literature on treatment outcomes of inherited keratinisation disorders treated with biologics.
Michelle K. Y. Chen, Alice L. Flanagan, Deshan F. Sebaratnam, Yaron Gu   +3 more
wiley   +1 more source

Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes [PDF]

, 2019
Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults.
Ablinger, Michael, Bygum, Anette, Guttmann-Gruber, Christina, Hainzl, Stefan, Hofbauer, Josefina Piñón, Klausegger, Alfred, Kocher, Thomas, Koller, Ulrich, Lackner, Nina, Lettner, Thomas, March, Oliver P., Peking, Patricia, Rajan, Neil, Reichelt, Julia   +13 more
core   +1 more source

Transcriptional differences between vesicular hand eczema and atopic dermatitis

Contact Dermatitis, Volume 90, Issue 1, Page 23-31, January 2024.
The comparison of the transcriptome of vesicular hand eczema with the transcriptome of atopic dermatitis indicates a common pathophysiology between the two skin diseases, but also reveals transcriptional differences between vesicular hand eczema and atopic dermatitis. Abstract Background Transcriptome analyses of vesicular hand eczema (VHE) indicated a
Fieke M. Rosenberg, René Wardenaar, Angelique N. Voorberg, Diana C. J. Spierings, Marie‐Louise A. Schuttelaar   +4 more
wiley   +1 more source

Uncommon Endoscopic Findings in a Tylosis Patient: A Case Report

Case Reports in Oncology, 2019
Palmoplantar tylosis is a focal non epidermolytic palmoplantar hyperkeratosis and is associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus (OSCC).
Balarama K. Surapaneni, Pragnan Kancharla, R. Vinayek, Sudhir K. Dutta, Mendel Goldfinger   +4 more
doaj   +1 more source