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Ichthyosis vulgaris

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https://www.readbyqxmd.com/read/28710038/steroid-sulfatase-and-filaggrin-mutations-in-a-boy-with-severe-ichthyosis-elevated-serum-ige-level-and-moyamoya-syndrome
#1
Qian Zhang, Nuo Si, Yaping Liu, Dong Zhang, Rong Wang, Yan Zhang, Shuo Wang, Xingju Liu, Xiaofeng Deng, Yonggang Ma, Peicong Ge, Jizong Zhao, Xue Zhang
X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120IU/ml) and moyamoya angiopathy. Whole-exome sequencing identified a gross deletion encompassing the STS in Xp22.31 and the p.K4022X FLG mutation...
July 11, 2017: Gene
https://www.readbyqxmd.com/read/28709564/current-and-emerging-concepts-in-atopic-dermatitis-pathogenesis
#2
Marguerite Sullivan, Nanette B Silverberg
Atopic dermatitis is a common skin disorder with a complex, evolving pathogenesis. Research on the pathogenesis has shifted from focusing primarily on generalized immune system abnormalities in T helper 1/T helper 2 (Th1/Th2) activity to more targeted immune and skin barrier abnormalities contributing to the overall phenotype. Specific signaling pathways recently implicated in atopic dermatitis include production of interleukin (IL) 4 and IL-13, which promote immunoglobulin E production, Th17 and Th22 cells, and production of cytokines...
July 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28604977/-ichthyosis-vulgaris-a-pedigree-with-13-cases
#3
Yaqin Wang, Chenqiu Zhang
No abstract text is available yet for this article.
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28543665/immunohistochemical-evaluation-of-epidermal-proliferation-differentiation-and-melanocytic-density-in-symmetrical-acrokeratoderma
#4
P-P Yang, J Peng, Y-Y Wu, Z Liu, P Sheng, Y Zhou, S-J Li, Y-M Fan
BACKGROUND: Symmetrical acrokeratoderma (SAK) is characterized by brown to black hyperkeratotic patches on acral regions. Although epidermal hyperkeratosis and acanthosis are consistent pathological changes, the nature of epidermal hyperplasia is unknown. AIM: To evaluate epidermal proliferation and differentiation and melanocytic density in skin lesions of SAK. METHODS: Expression of keratin 10 (K10), K14, K16, involucrin, filaggrin, Ki-67, and Melan-A was detected by immunohistochemistry in eight patients with SAK, seven patients with ichthyosis vulgaris (IV) and six healthy controls (HCs)...
May 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28526300/embryonic-ap1-transcription-factor-deficiency-causes-a-collodion-baby-like-phenotype
#5
Christina A Young, Richard L Eckert, Gautam Adhikary, Debra Crumrine, Peter M Elias, Miroslav Blumenberg, Ellen A Rorke
AP1 transcription factors are important controllers of gene expression in the epidermis, and altered AP1 factor function can perturb keratinocyte proliferation and differentiation. However, our understanding of how AP1 signaling changes may underlie or exacerbate skin disease is limited. We have shown that inhibiting AP1 factor function in suprabasal adult epidermis leads to reduced filaggrin levels and to a phenotype that resembles the genetic disorder, ichthyosis vulgaris. We now show that inhibiting AP1 factor function during development in embryonic epidermis produces marked phenotypic changes including reduced filaggrin mRNA and protein levels, compromised barrier function, marked ultrastructural change and enhanced dehydration susceptibility that resembles the phenotype observed in the flaky tail mouse, a model for ichthyosis vulgaris...
May 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28480858/-analysis-of-one-carbon-metabolism-genes-and-epidermal-differentiation-complex-in-patients-with-ichthyosis-vulgaris
#6
O Fedota, L Roshchenyuk, I Sadovnychenko, I Merenkova, I Gontar, V Vorontsov
The aim of the study was to evaluate the effects of allelic polymorphism of the FLG and MTHFR genes and their associations in gynecological patients with ichthyosis vulgaris. Gynecological disorders are observed in presence of some forms of ichtyosis. From the prospective of improving nation's healthcare, the greatest attention is drawn to reproductive disorders. Based on this, the research was also tasked with studying of the genetic nature of gynecological diseases, as well as the influence of geographical latitude on the frequencies of mutagenic alleles of the FLG gene and heterogeneous carriers of these mutations...
March 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28455573/filaggrin-gene-polymorphism-associated-with-epstein-barr-virus-associated-tumors-in-china
#7
Yang Yang, Wen Liu, Zhenzhen Zhao, Yan Zhang, Hua Xiao, Bing Luo
Mutations of filaggrin gene (FLG) have been identified as the cause of ichthyosis vulgaris, while recently FLG mutations were found to be associated with gastric cancer. This study aimed to investigate the association of filaggrin polymorphism with Epstein-Barr virus-associated tumors in China. A total of 200 patients with three types of tumors and 117 normal control samples were genotyped at three common FLG mutation loci (rs3126085, K4671X, R501X) by using Sequenom MassARRAY technique. The χ (2) test was used to evaluate the relationship between the mutation and the three kinds of tumors...
August 2017: Virus Genes
https://www.readbyqxmd.com/read/28249031/a-de-novo-variant-in-the-asprv1-gene-in-a-dog-with-ichthyosis
#8
Anina Bauer, Dominik P Waluk, Arnaud Galichet, Katrin Timm, Vidhya Jagannathan, Beyza S Sayar, Dominique J Wiener, Elisabeth Dietschi, Eliane J Müller, Petra Roosje, Monika M Welle, Tosso Leeb
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28213896/filaggrin-loss-of-function-mutations-atopic-dermatitis-and-risk-of-actinic-keratosis-results-from-two-cross-sectional-studies
#9
Y M F Andersen, A Egeberg, E Balslev, C L T Jørgensen, P B Szecsi, S Stender, J Kaae, A Linneberg, G Gislason, L Skov, P M Elias, J P Thyssen
BACKGROUND: Common loss-of-function mutations in filaggrin gene (FLG) represent a strong genetic risk factor for atopic dermatitis (AD). Homozygous mutation carriers typically display ichthyosis vulgaris (IV) and many have concomitant AD. Previously, homozygous, but not heterozygous, filaggrin gene mutations have been associated with squamous cell carcinomas. OBJECTIVE: The first objective was to examine the association between FLG mutations and actinic keratosis (AK)...
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27920816/concomitant-extraspinal-hyperostosis-and-osteoporosis-in-a-patient-with-congenital-ichthyosis
#10
Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark
Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27871086/the-influence-of-two-different-foam-creams-on-skin-barrier-repair-of-foot-xerosis-a-prospective-double-blind-randomised-placebo-controlled-intra-individual-study
#11
RANDOMIZED CONTROLLED TRIAL
Dorothee Daehnhardt, Stephan Daehnhardt-Pfeiffer, Judith Schulte-Walter, Thomas Neubourg, Eckhard Hanisch, Christel Schmetz, Marion Breuer, Regina Fölster-Holst
BACKGROUND/AIMS: Dry skin, or xerosis, is a common condition and a key feature of skin diseases like atopic dermatitis (AD) and ichthyosis vulgaris. Foot xerosis may exist without underlying disease and could be related to very mild forms of AD or ichthyosis vulgaris. The synthesis of important skin lipids (cholesterol, free fatty acids and ceramides) is reduced in xerosis and AD, and reduced lipid synthesis is responsible for a lack of lipids and enzymes in the skin barrier. This slows down reorganisation of the lipid lamellae in the stratum corneum (SC)...
2016: Skin Pharmacology and Physiology
https://www.readbyqxmd.com/read/27793761/alterations-in-epidermal-eicosanoid-metabolism-contribute-to-inflammation-and-impaired-late-differentiation-in-flg-mutated-atopic-dermatitis
#12
Stefan Blunder, Ralph Rühl, Verena Moosbrugger-Martinz, Christine Krimmel, Anita Geisler, Huiting Zhu, Debra Crumrine, Peter M Elias, Robert Gruber, Matthias Schmuth, Sandrine Dubrac
Loss-of-function mutations in the FLG gene cause ichthyosis vulgaris (IV) and represent the major predisposing genetic risk factor for atopic dermatitis (AD). Although both conditions are characterized by epidermal barrier impairment, AD also exhibits signs of inflammation. This work was aimed at delineating the role of FLG loss-of-function mutations on eicosanoid metabolism in IV and AD. Using human epidermal equivalents (HEEs) generated with keratinocytes isolated from nonlesional skin of patients with FLG wild-type AD (WT/WT), FLG-mutated AD (FLG/WT), IV (FLG/FLG), or FLG WT control skin, we assessed the potential autocrine role of epidermal-derived eicosanoids in FLG-associated versus FLG-WT AD pathogenesis...
March 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27742393/epidermal-equivalents-of-filaggrin-null-keratinocytes-do-not-show-impaired-skin-barrier-function
#13
Hanna Niehues, Joost Schalkwijk, Ivonne M J J van Vlijmen-Willems, Diana Rodijk-Olthuis, Michelle M van Rossum, Ewa Wladykowski, Johanna M Brandner, Ellen H J van den Bogaard, Patrick L J M Zeeuwen
No abstract text is available yet for this article.
June 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27725187/gram-positive-anaerobe-cocci-are-underrepresented-in-the-microbiome-of-filaggrin-deficient-human-skin
#14
Patrick L J M Zeeuwen, Thomas H A Ederveen, Danique A van der Krieken, Hanna Niehues, Jos Boekhorst, Sanja Kezic, Daniëlle A T Hanssen, Marisol E Otero, Ivonne M J J van Vlijmen-Willems, Diana Rodijk-Olthuis, Denise Falcone, Ellen H J van den Bogaard, Marijke Kamsteeg, Heleen D de Koning, Manon E J Zeeuwen-Franssen, Maurice A M van Steensel, Michiel Kleerebezem, Harro M Timmerman, Sacha A F T van Hijum, Joost Schalkwijk
No abstract text is available yet for this article.
April 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27667308/filaggrin-failure-from-ichthyosis-vulgaris-to-atopic-eczema-and-beyond
#15
REVIEW
W H I McLean
The main proteinaceous component of the keratohyalin granules within the granular layer keratinocytes of the epidermis is the giant, repetitive polyprotein profilaggrin. When granular layer cells commit to terminal differentiation to form the flattened squames of the stratum corneum, profilaggrin is rapidly cleaved into multiple copies of the 37 kDa filaggrin monomer, which binds to and condenses the keratin cytoskeleton, thereby facilitating cellular compression. Within the stratum corneum, filaggrin is broken down to form natural moisturising factor, a pool of amino acids and derivatives thereof that exerts multiple effects...
October 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27577213/-novel-missense-mutations-of-the-flg-gene-identified-in-two-chinese-families-affected-with-ichthyosis-vulgaris
#16
Qiguo Zhang, Yao Yang, Liangqi Cai, Yijin Huang, Yan Duan, Yanhua Liang
OBJECTIVE: To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris. METHODS: All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls. RESULTS: Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27525507/review-of-critical-issues-in-the-pathogenesis-of-atopic-dermatitis
#17
REVIEW
Alan D Irvine, Lawrence F Eichenfield, Sheila F Friedlander, Eric L Simpson
About a decade age, loss-of-function mutations in the filaggrin molecule were first implicated in the pathogenesis of ichthyosis vulgaris and, subsequently, of atopic dermatitis and other atopic diseases. Since then, intensive study of the role of filaggrin null mutations have led to other milestones in understanding the pathologic pathways in these diseases, including the initiation, maintenance, and promotion of the disease processes. The result has been new and emerging clinical and pharmacologic strategies for early identification of and intervention in atopic diseases...
June 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27519469/compound-heterozygotes-for-filaggrin-gene-mutations-do-not-always-show-severe-atopic-dermatitis
#18
A Sekiya, M Kono, H Tsujiuchi, T Kobayashi, T Nomura, M Kitakawa, N Suzuki, K Yamanaka, H Sueki, W H I McLean, H Shimizu, M Akiyama
BACKGROUND: Mutations in FLG, which encodes profilaggrin, cause ichthyosis vulgaris (IV) and are an important predisposing factor for atopic dermatitis (AD). IV shows autosomal hemidominant (semidominant) inheritance, and patients with bi-allelic FLG mutations tend to have severe IV phenotypes. However, the effect of bi-allelic FLG mutations on AD incidence and severity remains a subject of controversy. OBJECTIVE: In this study, we studied individuals with bi-allelic null FLG mutations to elucidate the effect of bi-allelic FLG mutations on AD incidence and severity...
January 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27462351/filaggrin-gene-mutations-and-new-snps-in-asthmatic-patients-a-cross-sectional-study-in-a-spanish-population
#19
José Luis Cubero, María Isidoro-García, Nieves Segura, David Benito Pescador, Catalina Sanz, Félix Lorente, Ignacio Dávila, Carlos Colás
BACKGROUND: Several null-mutations in the FLG gene that produce a decrease or absence of filaggrin in the skin and predispose to atopic dermatitis and ichthyosis vulgaris have been described. The relationship with asthma is less clear and may be due to the influence of atopy in patients with associated asthma. METHODS: Four hundred individuals were included, 300 patients diagnosed with asthma divided into two groups according to their phenotype (allergic and non-allergic asthma) and 100 strictly characterized controls...
2016: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/27366014/an-analysis-of-the-filaggrin-gene-polymorphism-in-korean-atopic-dermatitis-patients
#20
Kui Young Park, Kapsok Li, Joon Seok, Seong Jun Seo
Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean atopic dermatitis (AD) patients has been performed. This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients. The study was made up of three groups including 9 Ichthyosis vulgaris (IV) patients, 50 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and IV...
July 2016: Journal of Korean Medical Science
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