X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments

Hoppe, Torborg; Winge, M; Bradley, J. F. N.; Nordenskjöld, Magnus; Vahlquist, Anders; Berne, Berit; Törmä, Hans

doi:10.1111/j.1365-2133.2012.10979.x

Cited by 24 publications

(26 citation statements)

References 31 publications

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“…While more severe barrier defects in other ichthyoses result in marked epidermal hyperplasia and inflammation, the lesser abnormality in XLI provokes little epidermal hyperplasia or inflammation. This minimal pathology is supported by molecular assay studies that show very few genes are altered in the epidermis of XLI patients [103]. …”

Section: Basis For the Permeability Barrier Abnormality In XLImentioning

confidence: 95%

“…While patients with XLI display only a mild barrier abnormality under basal conditions [101–103], the kinetics of barrier recovery slow significantly following acute perturbations [100], suggesting that the excess cholesterol sulfate in the stratum corneum in XLI destabilizes permeability barrier homeostasis. In support of this hypothesis, excess cholesterol sulfate forms non-lamellar domains in both model lipid mixtures [104,105], and in XLI scale [106] (Fig.…”

Section: Basis For the Permeability Barrier Abnormality In XLImentioning

confidence: 99%

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Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Elias

Williams

Choi

et al. 2014

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a ‘cholesterol sulfate cycle’ that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. 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.

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Section: Basis For the Permeability Barrier Abnormality In XLImentioning

confidence: 95%

Section: Basis For the Permeability Barrier Abnormality In XLImentioning

confidence: 99%

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Elias

Williams

Choi

et al. 2014

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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“…The process of identifying contributing genes, including those involved in lipid processing, continues [6], [7], [8], [9]. Considerable effort has been devoted to understanding genotype to phenotype correlations, including recent work showing deficiency in filaggrin (FLG) as a prime factor in ichthyosis vulgaris (IV) [10], STS deletions resulting in altered ultrastructure and gene expression [11], [12], defects in ATP-binding cassette subfamily A12 (ABCA12) responsible for harlequin ichthyosis [13], [14], and mutations in transglutaminase 1 ( TGM1 ) causing approximately one-third of autosomal recessive congenital ichthyoses and the majority of the LI subtype [15], [16].…”

Section: Introductionmentioning

confidence: 99%

Distinguishing Ichthyoses by Protein Profiling

et al. 2013

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To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency). The ichthyosis protein expression patterns were readily distinguishable from each other and from phenotypically normal epidermis. In general, the degree of departure from normal was lower from ichthyosis vulgaris than from lamellar ichthyosis, parallel to the severity of the phenotype. Analysis of samples from families with ichthyosis vulgaris and concomitant modifying gene mutations (STS deficiency, GJB2 deficiency) permitted correlation of alterations in protein profile with more complex genetic constellations.

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“…No infl ammatory or repair mechanisms are triggered. Treatment with moisturizers does not have any major impact on the skin barrier properties [ 40 ].…”

Section: Ichthyosismentioning

confidence: 99%

Xerosis Means “Dry Skin”: Mechanisms, Skin Conditions, and Its Management

Giménez‐Arnau

2014

Filaggrin

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X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments

Abstract: Despite a dysfunctional skin barrier, the limited number of genes altered in XLRI skin suggests that no inflammatory or repair mechanisms are triggered. Treatment with moisturizers does not have any major impact on the skin barrier properties of patients with XLRI.

Cited by 24 publications

References 31 publications

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Distinguishing Ichthyoses by Protein Profiling

Xerosis Means “Dry Skin”: Mechanisms, Skin Conditions, and Its Management

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