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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Orphanet J Rare Dis
November 2024
Department of Dermatology, Maastricht University Medical Centre +, Maastricht, The Netherlands.
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal, which limited research on those diseases.
View Article and Find Full Text PDFA cellular disease model toward gene therapy of -dependent lamellar ichthyosis.
Mol Ther Methods Clin Dev
September 2024
Center for Regenerative Medicine "Stefano Ferrari", Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Lamellar ichthyosis (LI) is a chronic disease, mostly caused by mutations in the gene, marked by impaired skin barrier formation. No definitive therapies are available, and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopathological features of human skin conditions.
View Article and Find Full Text PDFMonogenic skin disorders such as ichthyosis introduce multiple sources of disturbance to the skin, including the direct biochemical consequences of the genotype, the phenotypic changes in skin physiology, and an altered skin microbiome. The association between changes in the skin microbiome and the disease's genotypic and phenotypic effects are of both ecological and clinical interest but are historically obscured by 1) the limited resolution of metagenomic profiles, and 2) additional sources of variation such as age and topical/oral treatments. Here we characterize the skin microbiome from seven ichthyosis genotypes, at species, strain, and metabolic pathway levels.
View Article and Find Full Text PDFComprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines
May 2024
CEINGE Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy.
Article Synopsis
- * Researchers found that 8 patients had autosomal recessive ichthyosis, while others had X-linked ichthyosis, with a total of 24 disease-causing alleles identified, including 8 novel variants.
- * The findings help enhance early diagnosis and classification of ichthyosis patients, broadening the understanding of the genetic and phenotypic diversity of inherited ichthyosis disorders.
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology
June 2024
Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Article Synopsis
- - Autosomal recessive congenital ichthyoses (ARCIs) are a group of skin disorders marked by scaling due to mutations in at least 12 different genes, with this study aiming to explore disease characteristics and their link to genetic factors.
- - The research involved 74 patients, primarily affected by lamellar ichthyosis and congenital ichthyosiform erythroderma, leading to the discovery of 25 new mutations and specific associations between mutations and clinical symptoms, such as alopecia and thick scales linked to particular gene mutations.
- - The findings highlighted that patients with mutations in TGM1 and ABCA12 had more severe symptoms compared to those with other mutations, while unique skin features were observed in NIPAL4-mut
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