ReviewJournal of lipid research2008
Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
Review in Journal of lipid research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
88 citing papers in PubMed, 1 synthesis or guideline pooled it, 181 citations in OpenAlex.
- Meta-Analysis of Mutations inGenes · 2021Pooled it
- Selected Vascular, Inflammatory, and Lipid Parameters in Patients with Selected Keratinization Disorders: Preliminary Data from a Retrospective Observational Study.Journal of clinical medicine · 2026Article
- An Aqueous Extract ofInternational journal of molecular sciences · 2026Article
- Epidemiology and Clinical Characteristics of Harlequin Ichthyosis: A Systematic Review and Meta-Analysis of Case Reports.Dermatology practical & conceptual · 2026Review
- Specific organelle targeting as a key step in epidermal lipid synthesis.Frontiers in medicine · 2026Article
- Lipidomic Analysis of Hand Skin Surface Lipids Reveals Smoking-Related Skin Changes.Metabolites · 2023Article
- 3D Molecular Imaging of Stratum Corneum by Mass Spectrometry Suggests Distinct Distribution of Cholesteryl Esters Compared to Other Skin Lipids.International journal of molecular sciences · 2022Article
- Review
- Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.The Journal of investigative dermatology · 2022Article
- KLF5 governs sphingolipid metabolism and barrier function of the skin.Genes & development · 2022Article
- Non-immune functions of inflammatory cytokines targeted by anti-psoriatic biologics: a review.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2022Review
- Nanodelivery Strategies for Skin Diseases with Barrier Impairment: Focusing on Ceramides and Glucocorticoids.Nanomaterials (Basel, Switzerland) · 2022Review
- Effect of galactosylceramide on stratum corneum intercellular lipid synthesis in a three-dimensional cultured human epidermis model.Biochemistry and biophysics reports · 2021Article
- Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.Pediatric rheumatology online journal · 2021Review
- Roles of Lipids in the Permeability Barriers of Skin and Oral Mucosa.International journal of molecular sciences · 2021Review
- Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021Review
- Mammalian Epidermis: A Compendium of Lipid Functionality.Frontiers in physiology · 2021Review
- Article
- 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.The Journal of clinical investigation · 2020Article
- Glucocerebrosidase: Functions in and Beyond the Lysosome.Journal of clinical medicine · 2020Review
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions. In most of these disorders, a permeability barrier abnormality "drives" pathophysiology through stimulation of epidermal hyperplasia. Among primary abnormalities of nonpolar lipid metabolism, triglyceride accumulation in neutral lipid storage disease as a result of a lipase mutation provokes a barrier abnormality via lamellar/nonlamellar phase separation within the extracellular matrix of the stratum corneum (SC). Similar mechanisms account for the barrier abnormalities (and subsequent ichthyosis) in inherited disorders of polar lipid metabolism. For example, in recessive X-linked ichthyosis (RXLI), cholesterol sulfate (CSO(4)) accumulation also produces a permeability barrier defect through lamellar/nonlamellar phase separation. However, in RXLI, the desquamation abnormality is in part attributable to the plurifunctional roles of CSO(4) as a regulator of both epidermal differentiation and corneodesmosome degradation. Phase separation also occurs in type II Gaucher disease (GD; from accumulation of glucosylceramides as a result of to beta-glucocerebrosidase deficiency). Finally, failure to assemble both lipids and desquamatory enzymes into nascent epidermal lamellar bodies (LBs) accounts for both the permeability barrier and desquamation abnormalities in Harlequin ichthyosis (HI). The barrier abnormality provokes the clinical phenotype in these disorders not only by stimulating epidermal proliferation, but also by inducing inflammation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.