Results 21 to 30 of about 18,146 (216)
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
Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie [PDF]
J Dtsch Dermatol GesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Cuperus E +7 more
europepmc +2 more sources
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
Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Acta Dermato-Venereologica, 2020 The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms.
J. Uitto +3 more
semanticscholar +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
Indian Dermatology Online Journal, 2013 The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities. It was suggestive of ichthyosis hystrix type of epidermal nevus,and is being reported in view of the rarity of this condition.
Surajit Nayak +2 more
openaire +3 more sources
Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
doaj +1 more source
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
American Journal of Human Genetics, 2020 The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause
L. Boyden +9 more
semanticscholar +1 more source