Results 41 to 50 of about 31,665 (304)
Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2021 Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID) syndrome predispose to fungal infection.
Hui-lei Miao +5 more
semanticscholar +1 more source
Cutaneous ichthyosis secondary to isoniazid
Egyptian Journal of Chest Disease and Tuberculosis, 2013 Introduction: Ichthyosis is a rare dermatological affection characterized by keratinization disorder. The occurrence of acquired ichthyosis in adults is an indicator of systemic disease.
Hatim Kouismi +2 more
doaj +1 more source
Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]
, 2011 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore +6 more
core +3 more sources
European Journal of Inflammation, 2021 Introduction Mutations in the filaggrin ( FLG ) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology to investigate the genetic causes of rare and complex inherited diseases including rheumatoid arthritis,
Xinxin Xu +6 more
doaj +1 more source
Distinguishing ichthyoses by protein profiling.
PLoS ONE, 2013 To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice +7 more
doaj +1 more source
Ichthyosis: A Road Model for Skin Research
Acta Dermato-Venereologica, 2020 The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in ...
A. Vahlquist, H. Törmä
semanticscholar +1 more source
Ocular complications of lamellar ichthyosis
Archives of Medicine and Health Sciences, 2018 Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
doaj +1 more source
Annular epidermolytic ichthyosis: a case report and literature review, [PDF]
Anais Brasileiros de Dermatologia, 2020 Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita +3 more
doaj +2 more sources
CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]
, 2017 Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C +6 more
core +3 more sources