Hereditary ichthyoses are due to alteration mutations in one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. There are syndromic and non-syndromic forms of ichthyosis. Whatever the etiology, almost all types of ichthyosis have a defective epidermal barrier which is the driving force behind hyperkeratosis, flaking of the skin and inflammation. In non-syndromic forms, these appearance are most evident in autosomal severe recessive congenital ichthyosis (ICRA) and epidermolytic ichthyosis, but they also occur to some extent in the common type of non-congenital ichthyosis. appropriate interpretation of ichthyosis -precondition not only for hereditary counseling but also for adequate patient information on prognosis and treatment options - is becoming increasingly possible thanks to recent advances in genetic knowledge and sequencing methods. DNA. This article reviews the better important facet of non-syndromic ichthyosis, fixata on state-of-the-art knowledge about the pathophysiology of disordershttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483774/, which will hopefully lead to new ideas about therapy.
Opinion: Human Genetics & Embryology
Opinion: Human Genetics & Embryology
Mini Review: Human Genetics & Embryology
Mini Review: Human Genetics & Embryology
Editorial: Human Genetics & Embryology
Editorial: Human Genetics & Embryology
Review Article: Human Genetics & Embryology
Review Article: Human Genetics & Embryology
Editorial: Human Genetics & Embryology
Editorial: Human Genetics & Embryology
AcceptedAbstracts: Journal of Molecular Biomarkers & Diagnosis
AcceptedAbstracts: Molecular Biomarkers & Diagnosis
Scientific Tracks Abstracts: Journal of Molecular Biomarkers & Diagnosis
Scientific Tracks Abstracts: Molecular Biomarkers & Diagnosis
Keynote: Molecular Biology: Open Access
Keynote: Molecular Biology: Open Access
Scientific Tracks Abstracts: Metabolomics:Open Access
Scientific Tracks Abstracts: Metabolomics:Open Access
Human Genetics & Embryology received 309 citations as per Google Scholar report