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Acta Dermato-venereologica Mar 2020The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the... (Review)
Review
The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient's skin symptoms. Despite this and other new knowledge about pathomechanisms, treatment of ichthyosis often remains unsatisfactory. This review highlights a series of approaches used to elucidate the pathobiology and clinical consequences of different types of ichthyosis, and related diseases with the ultimate goal of finding new and better treatments.
Topics: Drug Development; Epidermis; Genomics; Humans; Ichthyosis; Mutation; Water Loss, Insensible
PubMed: 32147743
DOI: 10.2340/00015555-3433 -
Actas Dermo-sifiliograficas May 2013The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This... (Review)
Review
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathing suit ichthyosis. The combined prevalence of LI and CIE has been estimated at 1 case per 138 000 to 300 000 population. In some countries or regions, such as Norway and the coast of Galicia, the prevalence may be higher due to founder effects. ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12. In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects.
Topics: Genes, Recessive; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis, Lamellar
PubMed: 23562412
DOI: 10.1016/j.adengl.2011.11.021 -
Molecular Genetics and Metabolism 2021Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The... (Review)
Review
Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
Topics: Diagnosis, Differential; Humans; Ichthyosis; Metabolic Diseases; Metabolism, Inborn Errors; Overtreatment; Skin; Skin Diseases
PubMed: 34304991
DOI: 10.1016/j.ymgme.2021.07.005 -
BMJ Case Reports Feb 2021
Topics: Humans; Hyperkeratosis, Epidermolytic; Skin
PubMed: 33602779
DOI: 10.1136/bcr-2020-240424 -
Skin Therapy Letter Jan 2020The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive... (Review)
Review
The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive transepidermal water loss. Although occasionally acquired, the majority of ichthyoses are inherited and can be pinpointed to characteristic genetic mutations. Management depends on disease severity and includes topical agents and lifestyle modifications with or without oral retinoids. Genetic counseling is also an important consideration. This review aims to highlight advances in our understanding of disease pathogenesis as well as the holistic approach necessary to adequately manage ichthyosis patients.
Topics: Dermatologic Agents; Genetic Counseling; Humans; Ichthyosis; Life Style; Mutation; Retinoids; Severity of Illness Index
PubMed: 32023022
DOI: No ID Found -
Dermatologic Therapy 2013During the past 20 years, tremendous progress has been made in our understanding of the molecular basis of many genetic skin conditions. The translation of these... (Review)
Review
During the past 20 years, tremendous progress has been made in our understanding of the molecular basis of many genetic skin conditions. The translation of these laboratory findings into effective therapies for affected individuals has been slow, however, in large part due to the risk of carcinogenesis from random viral genomic integration and the lack of efficacy of topically applied genetic material and most proteins. As intervention at the gene level still appears remote for most genetic disorders, increased knowledge about the cellular and biochemical pathogenesis of disease allows specific targeting of pathways with existing and/or novel drugs and molecules. In contrast to the requirement for personalization of most gene-based approaches, pathogenesis-based therapy is pathway specific, and in theory, it should have broader applicability. In this chapter, we provide an overview of the pathoetiology of the various types of ichthyoses and demonstrate how a pathogenesis-based approach can potentially lead to innovative treatments for these conditions. Notably, this strategy has been successfully validated for the treatment of the rare X-linked dominant condition, CHILD syndrome, in which topical applications of cholesterol and lovastatin together to affected skin resulted in marked improvement of the skin phenotype.
Topics: Abnormalities, Multiple; Administration, Topical; Cholesterol; Drug Combinations; Genetic Diseases, X-Linked; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Limb Deformities, Congenital; Lovastatin; Phenotype; Severity of Illness Index
PubMed: 23384020
DOI: 10.1111/j.1529-8019.2012.01528.x -
Indian Journal of Dermatology,... 2022
Review
Topics: Acantholysis; Diagnosis, Differential; Humans; Ichthyosis; Skin; Skin Diseases
PubMed: 34245536
DOI: 10.25259/IJDVL_1028_20 -
The British Journal of Dermatology Jun 2013Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar... (Review)
Review
Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented in this review article, FLG mutations are observed in approximately 7·7% of Europeans and 3·0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may have a generally altered risk of developing common diseases, even beyond atopic disorders. Mechanistic studies have shown increased penetration of allergens and chemicals in filaggrin-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel or irritants. Moreover, with our current knowledge, individuals with ichthyosis vulgaris should be protected against neonatal exposure to cats to prevent atopic dermatitis and should abstain from smoking to prevent asthma. Finally, they should be advised against excessive exposure to factors that decrease skin barrier functions and increase the risk of atopic dermatitis.
Topics: Animals; Cats; Filaggrin Proteins; Humans; Ichthyosis Vulgaris; Intermediate Filament Proteins; Mutation; Risk Factors
PubMed: 23301728
DOI: 10.1111/bjd.12219 -
European Journal of Human Genetics :... Feb 2013Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all... (Review)
Review
Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Diagnosing a specific entity is a particular challenge for the nonspecialist presented with the common clinical scaling. For the clinician, this review outlines an algorithmic approach for utilizing diagnostic clues to narrow down the differential diagnosis and to guide further testing and treatment options.
Topics: Apoptosis; Cell Differentiation; Cornea; Desmosomes; Diagnosis, Differential; Humans; Ichthyosis; Keratinocytes; Microscopy, Electron; Mutation; Skin
PubMed: 22739337
DOI: 10.1038/ejhg.2012.121 -
Biochimica Et Biophysica Acta Mar 2014Fatty acids in the epidermis can be incorporated into complex lipids or exist in a free form, and they are crucial to proper functions of the epidermis and its... (Review)
Review
Fatty acids in the epidermis can be incorporated into complex lipids or exist in a free form, and they are crucial to proper functions of the epidermis and its appendages, such as sebaceous glands. Epidermal fatty acids can be synthesized de novo by keratinocytes or taken up from extracutaneous sources in a process that likely involves protein transporters. Several proteins that are expressed in the epidermis have been proposed to facilitate the uptake of long-chain fatty acids (LCFA) in mammalian cells, including fatty acid translocase/CD36, fatty acid binding protein, and fatty acid transport protein (FATP)/very long-chain acyl-CoA synthetase. In this review, we will discuss the mechanisms by which these candidate transporters facilitate the uptake of fatty acids. We will then discuss the clinical implications of defects in these transporters and relevant animal models, including the FATP4 animal models and ichthyosis prematurity syndrome, a congenital ichthyosis caused by FATP4 deficiency. This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias.
Topics: Animals; Aniridia; Biological Transport, Active; Disease Models, Animal; Fatty Acid Transport Proteins; Fatty Acids; Female; Humans; Ichthyosis; Infant, Premature, Diseases; Kidney; Male; Psychomotor Disorders; Skin
PubMed: 24120574
DOI: 10.1016/j.bbalip.2013.09.016