Results 11 to 20 of about 29,876 (307)

Ichthyosis. [PDF]

BMJ, 1966
Russell Wells
openalex   +4 more sources

Generalised Ichthyosis [PDF]

Proceedings of the Royal Society of Medicine, 1915
J. L. Bunch
openalex   +3 more sources

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report. [PDF]

Clin Case Rep
ABSTRACT We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His).
Smits E, Naulaers G, Bolling MC, Legius E, Colmant C.   +4 more
europepmc   +2 more sources

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Genes, 2023
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin.
A. Hotz, J. Kopp, E. Bourrat, V. Oji, K. Süßmuth, K. Komlosi, B. Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, R. Betz, K. Giehl, Fiona Schedel, L. Weibel, Solveig Schulz, D. Stölzl, G. Tadini, E. Demiral, Karin Berggård, A. Zimmer, S. Alter, J. Fischer   +20 more
semanticscholar   +1 more source

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

International Journal of Molecular Sciences, 2022
Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI).
D. Chulpanova, A. Shaimardanova, Aleksei S. Ponomarev, S. Elsheikh, A. Rizvanov, V. Solovyeva   +5 more
semanticscholar   +1 more source

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

JAMA dermatology, 2021
Importance Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to
Qisi Sun, N. M. Burgren, S. Cheraghlou, A. Paller, M. Larralde, L. Bercovitch, J. Levinsohn, Ivy Ren, R. Hu, Jing Zhou, T. Zaki, R. Fan, C. Tian, Corey Saraceni, C. Nelson-Williams, E. Loring, B. Craiglow, L. Milstone, R. Lifton, L. Boyden, K. Choate   +20 more
semanticscholar   +1 more source

Congenital ichthyosis presentation and outcome - A case series

Journal of Family Medicine and Primary Care, 2023
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari, Vinaya A. Singh, Kailas G. Randad, Prasoon Bansal   +3 more
doaj   +1 more source

Quality of life among pediatric patients and their families suffering from congenital ichthyosis - A cross-sectional study

Indian Journal of Paediatric Dermatology, 2022
Introduction: Ichthyosis are a heterogeneous group of hereditary skin disorders characterized by dryness, hyperkeratosis, and desquamation. The purpose of this study was to evaluate quality of life (QoL) of patients with ichthyosis and their families ...
Priyanka Hemrajani, B C Sharath Kumar, Mona Sharma   +2 more
doaj   +1 more source

ABHD5 frameshift deletion in Golden Retrievers with ichthyosis

G3, 2021
Ichthyoses are hereditary skin disorders characterized by the formation of scales and defects in the outermost layer of the epidermis. In dogs, at least six different breed-specific ichthyoses including a relatively common PNPLA1-related autosomal ...
S. Kiener, D. Wiener, Kaitlin Hopke, Alison Diesel, V. Jagannathan, E. Mauldin, M. Casal, T. Leeb   +7 more
semanticscholar   +1 more source

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

British Journal of Dermatology, 2021
Recently, mutations in Adaptor Related Protein Complex 1 Subunit Beta 1 (AP1B1) have been identified as the cause of a new form of syndromic ichthyosis, which is characterized by neonatal onset of ichthyosis, erythroderma and deafness accompanied by ...
J. Vornweg, S. Gläser, M. Ahmad-Anwar, A. Zimmer, M. Kuhn, S. Hörer, G. Korenke, J. Grothaus, H. Ott, J. Fischer   +9 more
semanticscholar   +1 more source