Results 1 to 10 of about 18,577 (227)

Ichthyosis

Nature Reviews Disease Primers, 2023
This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature's AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections.
Carlos Gutiérrez-Cerrajero, Eli Sprecher, Amy S. Paller, Masashi Akiyama, Juliette Mazereeuw-Hautier, Angela Hernández-Martín, Rogelio González-Sarmiento   +6 more
semanticscholar   +6 more sources

Ichthyosis vulgaris: An updated review

Skin Health and Disease, 2023
Ichthyosis vulgaris is an inherited, non‐syndromic form of ichthyosis that presents with skin problems. Making up more than 95% cases of ichthyosis, ichthyosis vulgaris is caused by heterozygous loss‐of‐function mutation of the filaggrin gene, raising ...
Huda Jaffar, Zobia Shakir, Gaurav Kumar, Iman Fatima Ali   +3 more
doaj   +2 more sources

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 the development of targeted ...
Amy Paller, Ester Del Duca, Daniela Mikhaylov   +2 more
exaly   +2 more sources

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

A mixed-methods online survey approach using retrospective self-reporting to characterise congenital ichthyoses across age groups [PDF]

Orphanet Journal of Rare Diseases
Background The ichthyoses are a group of rare, dermatological conditions characterised by dry, thickened scales across the body and impaired skin barrier function.
Talia Elgie, William Davies, Georgina H. Wren   +2 more
doaj   +2 more sources

The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]

Vestnik Dermatologii i Venerologii, 2023
Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
doaj   +1 more source

Ichthyosis (concept, pathohistology, clinical picture, treatment)

Vestnik Dermatologii i Venerologii, 2021
Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova, Zarema Rimovna Khismatullina, Lyudmila Dmitrievna Panova, Anastasia Nikolaevna Panova   +3 more
doaj   +1 more source

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, Solveig Schulz, D. Stölzl, G. Tadini, E. Demiral, Karin Berggård, A. Zimmer, S. Alter, J. Fischer   +20 more
semanticscholar   +1 more source

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults

Archives of Dermatological Research, 2022
Importance Treatment of congenital ichthyoses primarily focuses on reversing skin scaling and is not pathogenesis based. Recent studies showed Th17 immune skewing, as in psoriasis, across the spectrum of ichthyosis, suggesting that targeting this pathway
R. Lefferdink, S. Rangel, M. Chima, E. Ibler, A. Pavel, Heejong Kim, Benedict Wu, H. Abu-Zayed, Jianni Wu, K. Jackson, Giselle K. Singer, K. Choate, E. Guttman‐Yassky, A. Paller   +13 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