Results 61 to 70 of about 5,336 (144)
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 +4 more
wiley +1 more source
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis
The Journal of Dermatology, Volume 51, Issue 9, Page 1180-1186, September 2024.Abstract Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal‐dominant ...
J. J. A. J. van der Velden +7 more
wiley +1 more source
Journal of Skin Cancer, 2011 Focal acantholytic dyskeratosis (FAD), epidermolytic hyperkeratosis (EHK), and Hailey-Hailey-like acantholysis (HH) represent unique histology reaction patterns, which can be associated with defined phenotypic and genotypic alterations.
Erich M. Gaertner
doaj +1 more source
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 +3 more
wiley +1 more source
, 2016 Bullous ichthyosiform erythroderma is an uncommon form childhood keratinizing disorder. Early in life it is associated with generalized blistering and erythroderma. Later on it produces rippled type of hyperkeratosis. The diagnosis is confirmed by a very
Zafar Iqbal Sheikh +2 more
core +1 more source
Genetic testing and new variants in diagnosis of congenital ichthyoses
Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Milja Salo +3 more
wiley +1 more source
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma [PDF]
, 2020 We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation.
Schepis, Carmelo +4 more
core +1 more source
Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis [PDF]
, 1994 The hereditary palmoplantar keratodermas are a heterogeneous group of diseases unified by thickening of the stratum corneum of the palms and soles with consequent painful fissuring, discomfort on pressure, and resultant disability.
Zloczower, Michael +7 more
core +1 more source
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 +3 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 +4 more
doaj +1 more source