Results 11 to 20 of about 18,146 (216)

New developments in the molecular treatment of ichthyosis: review of the literature

Orphanet Journal of Rare Diseases, 2022
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made.
M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier, A. H. Gostyński   +4 more
doaj   +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, Kira Süßmuth, K. Komlosi, B. Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, R. Betz, K. Giehl, Fiona Schedel, L. Weibel, S. 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, Somaia E. Elsheikh, A. Rizvanov, V. Solovyeva   +5 more
semanticscholar   +1 more source

Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.

Journal of Investigative Dermatology, 2022
Preliminary work suggested upregulation of inflammatory pathways in patients with common forms of ichthyosis. However, a comprehensive characterization of skin from various ichthyosis subtypes is unavailable, precluding development of targeted treatments.
Madeline Kim, D. Mikhaylov, S. Rangel, A. Pavel, H. He, Y. Renert-Yuval, Ester Del Duca, K. Malik, T. Huynh, E. Ibler, Mary Sun, Ning Zhang, Y. Estrada, J. Krueger, A. Paller, E. Guttman‐Yassky   +15 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

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

JAMA dermatology, 2022
Importance A comprehensive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the care of patients with ichthyosis, identifying appropriate participants for clinical trials, and quantifying treatment outcomes.
Qisi Sun, S. Asch, Cheryl B Bayart, Susan J. Bayliss, L. Benjamin, A. Bruckner, J. DiGiovanna, P. Fleckman, Tracy Funk, A. Lucky, C. Nelson, B. Newell, Ingrid C Polcari, J. Teng, M. Williams, Geliang Gan, Yanhong Deng, A. Paller, K. Choate   +18 more
semanticscholar   +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

Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance Acylceramide is essential for skin permeability barrier formation. However, its biosynthesis pathway has not yet been elucidated in its entirety.
Haruka Yamamoto, Miku Hattori, W. Chamulitrat, Yusuke Ohno, A. Kihara   +4 more
semanticscholar   +1 more source

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents

Pediatric dermatology, 2020
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long‐term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be ...
A. Zaenglein, M. Levy, N. Stefanko, L. Benjamin, A. Bruckner, K. Choate, B. Craiglow, J. DiGiovanna, L. Eichenfield, P. Elias, P. Fleckman, L. Lawley, R. Lewis, A. Lucky, E. Mathes, L. Milstone, A. Paller, Sonali S. Patel, D. Siegel, J. Teng, S. Tanumihardjo, L. Thaxton, M. Williams   +22 more
semanticscholar   +1 more source