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Ichthyosis vulgaris

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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
#1
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)...
November 22, 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-ad
#2
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 filaggrin (FLG) gene cause ichthyosis vulgaris (IV) and represent the major predisposing genetic risk factor for atopic dermatitis (AD). While 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 epidermal equivalents (HEEs) generated with keratinocytes isolated from non-lesional 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 vs...
October 25, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27742393/epidermal-equivalents-of-filaggrin-null-keratinocytes-do-not-show-impaired-skin-barrier-function
#3
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
We investigated differentiation and barrier properties of epidermal equivalents derived from ichthyosis vulgaris keratinocytes that were homozygous for FLG null mutations. We found no effect on penetration of tracer molecules, compared with filaggrin proficient keratinocytes.
October 11, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27725187/gram-positive-anaerobe-cocci-gpac-are-underrepresented-in-the-microbiome-of-filaggrin-deficient-human-skin
#4
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
Mutations in the filaggrin gene, which cause the skin disease ichthyosis vulgaris and are a genetic risk factor for atopic dermatitis, alter the cutaneous microbiome thereby affecting keratinocyte host defense responses following skin barrier disruption.
October 7, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27667308/filaggrin-failure-from-ichthyosis-vulgaris-to-atopic-eczema-and-beyond
#5
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
#6
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
#7
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
#8
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...
August 13, 2016: 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
#9
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
#10
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
https://www.readbyqxmd.com/read/27339295/clinical-characteristics-of-korean-patients-with-filaggrin-related-atopic-dermatitis
#11
K Y Park, M K Park, J Seok, K Li, S J Seo
BACKGROUND: Filaggrin is a key protein involved in skin barrier function. Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris and have been shown to be major predisposing factors for atopic dermatitis (AD). AIM: To investigative the clinical characteristics of patients with AD with FLG mutations and determine the differences between patients with AD with and without FLG mutations. METHODS: We identified FLG mutations in patients with AD by complete sequencing and SNaPshot methods, and then analysed the data on clinical characteristics from questionnaire responses...
August 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27168272/urea-a-clinically-oriented-overview-from-bench-to-bedside
#12
Adam J Friedman, Erika C von Grote, Matthew H Meckfessel
Urea is an important hygroscopic component of the epidermis, where it participates in the maintenance of skin hydration as part of the skin's source of natural moisturizing factor (NMF) in the outer most layers. Xerotic skin, which is frequently characterized as NMF-deficient, is a unifying trait of dermatoses such as atopic dermatitis (AD), psoriasis, and ichthyosis vulgaris. The reduced hygroscopic potential of pathologically dry skin leads to unregulated transepidermal water loss (TEWL), epidermal hyperproliferation, and inhibited desquamation; all which clinically translate to hyperkeratotic and possibly pruritic skin...
May 1, 2016: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/27060320/-11-cases-of-ichthyosis-vulgaris-from-a-family
#13
Qingli Quan, Fan Wu, Haiou Jiang
No abstract text is available yet for this article.
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/26945532/inherited-ichthyosis-non-syndromic-forms
#14
REVIEW
Takuya Takeichi, Masashi Akiyama
Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms...
March 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/26770148/the-effect-of-dietary-change-in-a-patient-with-ichthyosis-vulgaris-a-case-report
#15
Brian Anderson
Ichthyosis vulgaris (IV) is a genetic skin condition of autosomal dominant inheritance. The main symptom associated with IV is scaling of the skin. Traditional treatment involves the application of various topical creams or ointments. The current case study documents significant improvement in the symptoms of a 20-y-old female patient with IV through use of dietary change based on food-sensitivity testing and supplement use- fish oil, vitamin D, and probiotics. She had previously used traditional topical therapies with less than optimal results...
June 2015: Integrative Medicine
https://www.readbyqxmd.com/read/26396540/bilateral-lower-extremity-hyperkeratotic-plaques-a-case-report-of-ichthyosis-vulgaris
#16
Hayley Leight, Zachary Zinn, Omid Jalali
Here, we report a case of a middle-aged woman presenting with severe, long-standing, hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications. Initial history and clinical findings were suggestive of an inherited ichthyosis. Ichthyoses are genetic disorders characterized by dry scaly skin and altered skin-barrier function. A diagnosis of ichthyosis vulgaris was confirmed by histopathology. Etiology, prevalence, and treatment options are discussed.
2015: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/26267423/clinical-effectiveness-of-moisturizers-in-atopic-dermatitis-and-related-disorders-a-systematic-review
#17
REVIEW
Jonatan D Lindh, Maria Bradley
BACKGROUND: Moisturizers are widely used for atopic dermatitis (AD) and related conditions, but available evidence of their effectiveness has not been reviewed in a systematic fashion. OBJECTIVES: Our objective was to investigate the effectiveness of emollients, as a group and individually, in the treatment of AD and related conditions, by means of a systematic review. DATA SOURCES: Studies indexed in MEDLINE and/or Embase before 16 January 2015...
October 2015: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/25807069/myb-via-tgf%C3%AE-is-required-for-collagen-type-1-production-and-skin-integrity
#18
Shienny Sampurno, Ryan Cross, Helen Pearson, Pritinder Kaur, Jordane Malaterre, Robert G Ramsay
Skin integrity requires an ongoing replacement and repair orchestrated by several cell types. We previously investigated the architecture of the skin of avian myeloblastosis viral oncogene homolog (Myb) knock-out (KO) embryos and wound repair in Myb(+/)(-) mice revealing a need for Myb in the skin, attributed to fibroblast-dependent production of collagen type 1. Here, using targeted Myb deletion in keratin-14 (K14) positive cells we reveal further Myb-specific defects in epidermal cell proliferation, thickness and ultrastructural morphology...
April 2015: Growth Factors
https://www.readbyqxmd.com/read/25660180/sebaceous-gland-hair-shaft-and-epidermal-barrier-abnormalities-in-keratosis-pilaris-with-and-without-filaggrin-deficiency
#19
Robert Gruber, Jeffrey L Sugarman, Debra Crumrine, Melanie Hupe, Theodora M Mauro, Elizabeth A Mauldin, Jacob P Thyssen, Johanna M Brandner, Hans-Christian Hennies, Matthias Schmuth, Peter M Elias
Although keratosis pilaris (KP) is common, its etiopathogenesis remains unknown. KP is associated clinically with ichthyosis vulgaris and atopic dermatitis and molecular genetically with filaggrin-null mutations. In 20 KP patients and 20 matched controls, we assessed the filaggrin and claudin 1 genotypes, the phenotypes by dermatoscopy, and the morphology by light and transmission electron microscopy. Thirty-five percent of KP patients displayed filaggrin mutations, demonstrating that filaggrin mutations only partially account for the KP phenotype...
April 2015: American Journal of Pathology
https://www.readbyqxmd.com/read/25292205/-new-classification-and-genetic-background-of-inherited-ichthyoses
#20
REVIEW
Rikke Elkjær Andersen, Jens Michael Hertz, Anette Bygum
A new classification of inherited ichthyoses is presented based on clinical features, genetic background and pathophysiology. Ichthyoses are disorders of cornification and may be part of syndromes. Ichthyosis vulgaris, X-linked ichthyosis, autosomal recessive congenital ichthyosis and syndrome-related variants are described. Severe forms can be potentially life-threatening. Dry scaly skin can be disabling and time-consuming, as the patient needs topical therapy and sometimes also systemic retinoids. Treatment today is symptomatic, but hopefully new knowledge will lead to targeted therapies...
July 14, 2014: Ugeskrift for Laeger
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