X-linked ichthyosis: An oculocutaneous genodermatosis

Fernandes, Neil F.; Jänniger, Camila K.; Schwartz, Robert A.

doi:10.1016/j.jaad.2009.04.028

Cited by 68 publications

(86 citation statements)

References 54 publications

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“…Major barrier lipid content of involved skin was assessed in comparison to non-ichthyotic scaly lesions from sunburn dermatitis as a control subject (note: we and others found that there is no significant difference in lipid content of sunburn scale and of nonsunburn scales from normal donors [5]). Although there was no difference in the quantity of cholesterol between the patient and control, free fatty acid (FFA) was increased by about two-fold over control (Fig.…”

Section: [ ( ) T D $ F I G ]mentioning

confidence: 99%

“…As a consequence of STS deficiency its substrate, cholesterol sulfate, accumulates in the stratum corneum. This accumulation disturbs the normal desquamation and membrane integrity within the outermost skin layer and results in both the typical scaling phenotype as well as a permeability barrier dysfunction [5]. In the present study we analyzed an affected patient with clinical signs of XLRI but without any detectable deletion in the STS gene.…”

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confidence: 99%

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Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Winge

Hoppe

Liedén

et al. 2011

Journal of Dermatological Science

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Section: [ ( ) T D $ F I G ]mentioning

confidence: 99%

mentioning

confidence: 99%

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Winge

Hoppe

Liedén

et al. 2011

Journal of Dermatological Science

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“…X-linked ichthyosis (XLI) is a rare dermatological disease, thought to affect between 1 in 3000–6000 males, and caused by deficiency for the enzyme steroid sulfatase [7]. Case studies and work in a small sample of boys with the condition had indicated that individuals with XLI may be at increased risk of developmental disorders, including Attention Deficit Hyperactivity Disorder (ADHD) and autism spectrum, and related, disorders (ASDs).…”

Section: New Insights Into the Rare Disease X-linked Ichthyosis (Xli)mentioning

confidence: 99%

Insights into rare diseases from social media surveys

Davies

2016

Orphanet J Rare Dis

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The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obtain unprecedented access to relatively large cohorts of individuals with rare diseases, as well as their relatives, carers and professionals involved in their healthcare. Online surveys of these stakeholder groups may provide important new insights into rare conditions and their management relatively quickly and easily, with the possibility of rapid translation into healthcare interventions and policy. Here, I describe our recent positive experience with the online survey approach to a rare disease (X-linked ichthyosis), and review its advantages and limitations.

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“…Up to half of all patients with XLI present with some type of ocular symptoms-PDCD is not present in all individuals with XLI. 52 The majority of patients with XLI have a deletion of the steroid sulfatase (microsomal), isozyme S (STS) gene. In one individual with XLI and PDCD, a microdeletion was identified, which included STS.…”

Section: Pre-descemet Corneal Dystrophy Associated With X-linked Ichtmentioning

confidence: 99%

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

Oliver

Vincent

2016

Asia-Pacific Journal of Ophthalmology

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Corneal dystrophies are a group of inherited disorders affecting the cornea, many of which lead to visual impairment. The International Committee for Classification of Corneal Dystrophies has established criteria to clarify the status of the various corneal dystrophies, which include the knowledge of the underlying genetics. In this review, we discuss the International Committee for Classification of Corneal Dystrophies category 1 (second edition) corneal dystrophies, for which a clear genetic link has been established. We highlight the various mechanisms underlying corneal dystrophy pathology, including structural disorganization, instability or maladhesion, aberrant protein stability and deposition, abnormal cellular proliferation or apoptosis, and dysfunction of normal enzymatic processes. Understanding these genetic mechanisms is essential for designing targets for therapeutic intervention, especially in the age of gene therapy and gene editing.

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X-linked ichthyosis: An oculocutaneous genodermatosis

Cited by 68 publications

References 54 publications

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Insights into rare diseases from social media surveys

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

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