Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation

Bchetnia, Mbarka; Farez, Tarik; Lacroix, Jacynthe; Leclerc, Gilles; Powell, Julie; McCuaig, Catherine; Legendre-Guillemin, Valerie; Dupérée, Audrey; Morin, Charles; Laprise, Catherine

doi:10.1016/j.jdermsci.2012.09.017

Cited by 3 publications

(3 citation statements)

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“…In a recent gene array analysis of chronic venous wound skin (vs. healthy skin), 2-fold increases were noted for almost 3,500 genes, among them some encoding innate immune responses (IL-6; IL-8; b-defensin 2; S100As) and a few IL-17 and TNF-a coregulated genes (IL36G, KYNU), but not CCL20, CXCL1, or IL17A (Stone et al, 2017). In a form of epidermolysis bullosa simplex, a chronic blistering disorder with associated inflammation, five immune response genes were differentially up-regulated compared with normal skin, based on gene arrays; these included CCL22 (Th1) and CCL5/RANTES (Th2), but none from the Th17 pathway (Bchetnia et al, 2013). Response to medication has recently been suggested as an additional marker for correlating suspected immune phenotype with clinical morphology (Eyerich and Eyerich, 2018).…”

Section: What Is the Significance Of Th17 Skewing In Ichthyosis?mentioning

confidence: 99%

Profiling Immune Expression to Consider Repurposing Therapeutics for the Ichthyoses

Paller

2019

Journal of Investigative Dermatology

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Despite extensive discovery about the mutations underlying genetic skin disorders, there have been few therapeutic advances. Better understanding of the molecular changes that may lead to the phenotypic manifestations of genetic disorders may lead to the discovery of new pharmacologic interventions. The ichthyoses are characterized by scaling, inflammation, and an impaired epidermal barrier. Recent studies have uncovered T helper type 17 skewing in ichthyotic skin, resembling psoriasis, and high frequencies of IL-17e and IL-22eexpressing T cells in blood, correlating with severity and transepidermal water loss. Repurposing systemic T helper type 17/IL-23einhibitory therapies for psoriasis may prove useful for patients with ichthyosis.

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Section: What Is the Significance Of Th17 Skewing In Ichthyosis?mentioning

confidence: 99%

Profiling Immune Expression to Consider Repurposing Therapeutics for the Ichthyoses

Paller

2019

Journal of Investigative Dermatology

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“…This finding indicates the complexity of the structure and function of KRT5 and shows that the head domain has a closer relationship to melanosome trafficking and distribution. One study using microarray analysis suggested that skin pigmentation in the patient with EBS‐MP may be dependent on higher expression of tyrosinase .…”

Section: Epidermolysis Bullosa Simplex With Mottled Pigmentation and mentioning

confidence: 99%

Updated review of genetic reticulate pigmentary disorders

Zhang

Yao

2017

Br J Dermatol

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Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. This updated review provides a clinical and molecular delineation of these genetic reticulate pigmentary disorders and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis, as well as to provide useful information for clinical and genetic counselling.

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“…Ceci suggère que cette enzyme joue un rôle pertinent dans la physiopathologie de la maladie (Bchetnia et al, 2012).…”

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Impact de l'interféron gamma sur la production de la kératine 15 dans les kératinocytes isolés de la peau de patients atteints d'épidermolyse bulleuse simplex /

Farez¹

2013

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Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation

Cited by 3 publications

References 10 publications

Profiling Immune Expression to Consider Repurposing Therapeutics for the Ichthyoses

Profiling Immune Expression to Consider Repurposing Therapeutics for the Ichthyoses

Updated review of genetic reticulate pigmentary disorders

Impact de l'interféron gamma sur la production de la kératine 15 dans les kératinocytes isolés de la peau de patients atteints d'épidermolyse bulleuse simplex /

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