<scp>CHILD</scp> syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol

Xia, Yu; Zhang, J; Gu, Yaoyao; De-zhong, Dan; Wu, Zhouwei; Bao, Lei; Li, M; Yao, Zhirong

doi:10.1111/jdv.14788

Cited by 14 publications

(11 citation statements)

References 22 publications

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“…By contrast, few data are actually available about NSDHL and MSMO1, representing two other downregulated genes localized downstream the squalene epoxide synthesis. These transcripts have been associated with metabolic disease in humans [ 42 , 43 ]; however, the cattle NSDHL gene has been associated with transcriptomic changes occurring during the oocyte developmental competence [ 44 ], whereas MSMO1 (together with HMG-CoA reductase and other genes involved in cholesterol synthesis) was enriched in heifers fed with different forage-to-concentrate ratios [ 45 ]. Therefore, we hypothesize that the downregulation we observed might be due to a general rather than a gene-specific effect of GPO on cholesterol pathway.…”

Section: Discussionmentioning

confidence: 99%

RNA Sequencing-Based Whole-Transcriptome Analysis of Friesian Cattle Fed with Grape Pomace-Supplemented Diet

Iannaccone

Elgendy

Giantin

et al. 2018

Animals

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Simple SummaryGrape pomace (GPO) is an important source of polyphenols which are known to have antioxidant properties. In the past decade, GPO has received some attention as a bioactive dietary component in farm animals’ diet. In this study, we have analyzed the whole-transcriptome of Friesian calves fed with a GPO-supplemented diet using RNA-sequencing. We noted that the most affected pathway was the cholesterol lipid biosynthesis and this effect was consistent with a reduction in both serum cholesterol and lipid oxidation in the carcasses. This study provides evidence on the antioxidant property of GPO-supplemented diet, from a molecular biology standpoint.AbstractGrape pomace (GPO), the main by-product of the wine making process, is a rich source of polyphenols with potent antioxidant properties. Recently, GPO has emerged as a potential feed additive in livestock nutrition, with several reports describing its beneficial effects on animals’ overall health status or production traits. However, little is known about it from a molecular biology standpoint. In the present study, we report the first RNA sequencing-based whole-transcriptome profiling of Friesian calves fed with a GPO-supplemented diet. We identified 367 differentially expressed genes (p < 0.05) in the GPO-supplemented calves (n = 5), when compared with unsupplemented control group (n = 5). The pathway analysis showed that ‘cholesterol lipid biosynthesis’ was the most negatively-enriched (p < 0.001) pathway in the GPO-supplemented animals. In specific terms, five important genes coding for cholesterol biosynthesis enzymes, namely the Farnesyl-diphosphate Farnesyltransferase 1 (FDFT-1), Squalene Epoxidase (SQLE), NAD(P)-dependent Steroid Dehydrogenase-like (NSDHL), Methylsterol Monooxygenase (MSMO)-1, and Sterol-C5-desaturase (SC5D), two major transcription factors (the Sterol Regulatory Element-binding Transcription Factor 1 and 2), as well as the Low-Density Lipoprotein Receptor (LDLR), were all downregulated following GPO supplementation. Such an effect was mirrored by a reduction of blood cholesterol levels (p = 0.07) and a lowered (p < 0.001) Malondialdehyde (lipid oxidation marker) level in carcasses. We provide evidence on the effects of GPO-supplemented diets on the whole-transcriptome signature in veal calves, which mainly reflects an antioxidant activity.

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Section: Discussionmentioning

confidence: 99%

RNA Sequencing-Based Whole-Transcriptome Analysis of Friesian Cattle Fed with Grape Pomace-Supplemented Diet

Iannaccone

Elgendy

Giantin

et al. 2018

Animals

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“…Skin manifestations include unilateral red, scaly plaques in a ptychotropic or blaschkoid distribution with midline delineation 1 . Extracutaneous manifestations of CHILD include ipsilateral limb hypoplasia with or without limb malformations 2,3 . Proposed hypotheses for the development of the cutaneous dermatitis include the inability to produce cholesterol and the accumulation of toxic cholesterol precursors 2 .…”

Section: Introductionmentioning

confidence: 99%

“…Proposed hypotheses for the development of the cutaneous dermatitis include the inability to produce cholesterol and the accumulation of toxic cholesterol precursors 2 . Histopathology may demonstrate foamy histiocytes in the dermal papilla or a psoriasiform dermatitis 3 …”

Section: Introductionmentioning

confidence: 99%

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment

Kallis

Bisbee

Garganta

et al. 2021

Pediatric Dermatology

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Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X‐linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recently, pathogenesis‐based treatment has demonstrated improvement of skin lesions with statins by decreasing formation of cholesterol intermediates through inhibition of cholesterol synthesis. We report a 10‐month‐old girl who presented with unilateral scaly ptychotropic plaques, who experienced rapid, near‐complete clearance with topical 5% simvastatin monotherapy twice daily.

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“…Genomic DNA was extracted from three cultured cell types and 2 mL of blood using a TIANamp Blood DNA Kit [Tiangen Biotech (Beijing) Co., Ltd, Beijing, China]. Next‐generation sequencing (NGS) based on a custom enrichment kit including a total of 438 genes associated with genodermatosis was performed as previously described 7 . Meanwhile, copy number variant (CNV) analysis based on NGS data using read depth was performed to detect the CNVs in these genes.…”

Section: Figurementioning

confidence: 99%

“…Next-generation sequencing (NGS) based on a custom enrichment kit including a total of 438 genes associated with genodermatosis was performed as previously described. 7 Meanwhile, copy number variant (CNV) analysis based on NGS data using read depth was performed to detect the CNVs in these genes.…”

mentioning

confidence: 99%

Café au lait macules overlying segmental macular hyperpigmentation in a paediatric patient: an early sign for mosaic neurofibromatosis type 1

et al. 2020

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CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol

Cited by 14 publications

References 22 publications

RNA Sequencing-Based Whole-Transcriptome Analysis of Friesian Cattle Fed with Grape Pomace-Supplemented Diet

RNA Sequencing-Based Whole-Transcriptome Analysis of Friesian Cattle Fed with Grape Pomace-Supplemented Diet

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment

Café au lait macules overlying segmental macular hyperpigmentation in a paediatric patient: an early sign for mosaic neurofibromatosis type 1

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