Clinical Pathologic Correlation of Superficial Corneal Opacities in X-linked Ichthyosis

Macsai, Marian S.; Doshi, H. V.

doi:10.1016/s0002-9394(14)75799-x

Cited by 11 publications

(7 citation statements)

References 18 publications

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“…17 The stromal opacities typically do not affect vision, although a few cases of affected individuals symptomatic from associated epithelial irregularities, subepithelial stromal opacities and recurrent corneal erosions have been reported. 11–13, 18–20 …”

Section: Discussionmentioning

confidence: 99%

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Hung

Ayabe

Wang

et al. 2013

Cornea

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Purpose To report the association of X-inked ichthyosis and pre-Descemet corneal dystrophy with a deletion of the steroid sulfatase gene (STS) detected with microarray-based comparative genomic hybridization (aCGH). Methods A slit lamp biomicroscopic and cutaneous examination were performed, after which a saliva sample was collected as a source of genomic DNA. PCR amplification of each of the 10 exons of STS was performed, as was aCGH on genomic DNA to detect copy number variation (CNV). Results Slit lamp examination revealed punctate opacities in the posterior corneal stroma of each eye. Cutaneous examination demonstrated scaling and flaking skin of the arms and legs. PCR amplification using primers designed to amplify each of the 10 exons of STS failed to produce any amplicons. Subsequently, aCGH performed on genomic DNA revealed a microdeletion in the Xp22.31 cytoband of approximately 1.7 megabases, containing STS. Conclusions The identification of a microdeletion within Xp22.3 containing STS with aCGH in an individual with suspected pre-Descemet corneal dystrophy and X-inked ichthyosis demonstrates the clinical utility of CNV analysis in confirming a presumptive clinical diagnosis.

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Section: Discussionmentioning

confidence: 99%

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Hung

Ayabe

Wang

et al. 2013

Cornea

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“…The described these as superficial, small, grey, granular opacities involving the epithelium, subepithelial and anterior stromal layers, with no irregularity or elevation of the overlying epithelium, or staining with fluorescein. Macsai and Doshi46 reported a 73-year-old man with XLI and steroid sulfatase deficiency to have white-grey, granular, subepithelial and anterior stromal corneal opacities. In contrast, these opacities resulted in irregular overlying corneal epithelium.…”

Section: Ophthalmic Featuresmentioning

confidence: 99%

Ocular manifestations, complications and management of congenital ichthyoses: a new look

2017

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Congenital ichthyoses (CI) are rare genetic skin keratinisation diseases characterised by generalised scaling and a variable degree of erythema and hyperkeratosis. Ocular involvement includes the eyelids, conjunctiva and all layers of the cornea. Ophthalmic input should include regular slit lamp review with the primary aim to prevent a corneal epithelial defect, secondary bacterial infection, scarring or perforation. This review highlights the current literature regarding ophthalmic findings and management of CI.

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“…The STS gene is located on the distal tip of the short arm of the X chromosome, locus Xp22.3. To detect the deletion of STS gene, multiplex DNA amplification ( 4 ), Southern blot ( 5 ), and PCR ( 6 ) methods have been employed, but more recently, the fluorescence in situ hybridization (FISH) technique has been utilized for a rapid identification of deletions ( 7 ). FISH analysis is particularly useful in the diagnosis of carriers, as it can detect genes even if their expression is suppressed ( 8 9 ), though false negatives can occur with point mutations.…”

Section: Introductionmentioning

confidence: 99%

Skin Barrier Function Is Not Impaired andKallikrein7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

et al. 2016

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X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.

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Clinical Pathologic Correlation of Superficial Corneal Opacities in X-linked Ichthyosis

Cited by 11 publications

References 18 publications

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Ocular manifestations, complications and management of congenital ichthyoses: a new look

Skin Barrier Function Is Not Impaired andKallikrein7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

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