Academic literature on the topic 'Ichthyosis vulgaris'

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Journal articles on the topic "Ichthyosis vulgaris"

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Traupe, Heiko, and Vinzenz Oji. "Neue Erkenntnisse zum Thema Ichthyose." Kinder- und Jugendmedizin 7, no. 05 (2007): 247–56. http://dx.doi.org/10.1055/s-0038-1625673.

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ZusammenfassungIchthyosen umfassen eine ätiologisch heterogene Gruppe von Verhornungsstörungen, die die gesamte Haut betreffen und durch sichtbare Schuppung und Verdickung der Hornhaut charakterisiert sind. Häufig besteht zusätzlich ein Erythem. Neben der Unterteilung in kongenital und nicht-kongenital unterscheidet man isolierte Ichthyosen, wie die X-chromosomal rezessive Ichthyose oder lamelläre Ichthyose, von Ichthyose-Syndromen, wie das Comèl-Netherton- oder Sjögren-Larsson-Syndrom. Kongenitale Ichthyosen sind selten und manifestieren sich unter dem Bild eines Kollodiumbabys oder als kongenitale ichthyosiforme Erythrodermie. In den letzten Jahren wurden erneut wichtige Meilensteine der Ichthyoseforschung passiert, z. B. die molekulargenetische Aufklärung der Harlekin-Ichthyose und Ichthyosis vulgaris. Trotz meist fehlender kausaler Therapiemöglichkeit stellt die verbesserte Diagnostik einen großen Gewinn für Betroffene dar. Darüber hinaus existieren mannigfache symptomatische Therapieoptionen. Hilfreiche Organisationen in Deutschland stellen die Selbsthilfe Ichthyose e. V. (www.ichthyose.de) und das Netzwerk für Ichthyose und verwandte Verhornungsstörungen (NIRK) (www.netzwerk-ichthyose.de) dar.
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Hassan, Md Kamrul, Aloke Kumar Saha, Poly Begum, Tahmina Akter, and Shyamol Kumar Saha. "A Case Report on Congenital Ichthyosis - Collodion Baby." Faridpur Medical College Journal 11, no. 1 (December 29, 2016): 39–42. http://dx.doi.org/10.3329/fmcj.v11i1.30880.

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Collodion baby describes a highly characteristic clinical entity in newborns encased in a yellowish translucent membrane resembling collodion. In most cases the condition either precedes the development of one of a variety of ichthyoses, the commonest of which are lamellar ichthyosis and non-bullous ichthyosiform erythroderma, or occasionally represents an initial phase of other ichthyoses such as ichthyosis vulgaris. In at least 10% of all cases of collodion baby, the condition is followed by a mild ichthyosis of lamellar type, so mild as to be considered more or less normal, so-called self-healing collodion baby or 'lamellar ichthyosis of the newborn'. In this report, we present a severe form of ichthyosis.Faridpur Med. Coll. J. Jan 2016;11(1): 39-42
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Stojanović, Vesna, Aleksandra Doronjski, Slobodan Spasojević, Nataša Stašuk, and Anica Radulović. "Collodion Baby - a Case Report." Serbian Journal of Dermatology and Venereology 6, no. 4 (December 1, 2014): 186–90. http://dx.doi.org/10.2478/sjdv-2014-0016.

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Abstract Colloidon baby describes a highly characteristic clinical entity in newborns encased in a yellowish translucent membrane resembling collodion. In most cases the condition either precedes the development of one of a variety of ichthyoses, the commonest of which are lamellar ichthyosis and non-bullous ichthyosiform erythroderma, or occasionally represents an initial phase of other ichthyoses such as ichthyosis vulgaris. In at least 10% of all cases of collodion baby, the condition is followed by a mild ichthyosis of lamellar type, so mild as to be considered more or less normal, so-called self-healing collodion baby or ‘lamellar ichthyosis of the newborn’. In this report we present a rare case of collodion baby in whom, after collodion membrane peeled-off, the skin retained normal appearance.
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Fitch, Naomi. "Ichthyosis vulgaris." Clinical Genetics 15, no. 2 (April 23, 2008): 206. http://dx.doi.org/10.1111/j.1399-0004.1979.tb01766.x.

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Fitch, Dr Naomi. "Dominant ichthyosis vulgaris." Clinical Genetics 11, no. 3 (April 23, 2008): 311–12. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01318.x.

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Fozia, Fozia, Rubina Nazli, Sher Alam Khan, Ahmed Bari, Abdul Nasir, Riaz Ullah, Hafiz Majid Mahmood, et al. "Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis." Genes 12, no. 3 (March 5, 2021): 373. http://dx.doi.org/10.3390/genes12030373.

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Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word “ichthys” meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. There are many varieties of ichthyosis with a broad spectrum of intensity, severity, and associated symptoms, most of them are extremely rare. Ichthyosis vulgaris is the most frequently occurring type of ichthyoses. Method: The present study consists of four Pakistani ichthyosis families (A, B, C, and D). Whole exome sequencing (WES) approach was used to identify the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Results: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2B1: c.419C > T; p. Ala140Val), and a nonsense (FLG: c.6109C > T; p. Arg2037Ter) variant were identified in families A, C, B, and D, respectively, as causative mutations responsible for ichthyosis in these families. Conclusion: Our study unravels the molecular etiology of the four Pakistani ichthyosis families and validates the involvement of TGM1, SULT2B1, SPINK5, and FLG, in the etiology of different forms of ichthyosis. In addition, this study also aims to give a detailed clinical report of the studied ichthyosis families.
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Oji, Vinzenz. "Ichthyosis vulgaris von X-chromosomal rezessiver Ichthyose unterscheiden." hautnah dermatologie 33, no. 5 (September 2017): 40–43. http://dx.doi.org/10.1007/s15012-017-2523-6.

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Oji, Vinzenz. "Ichthyosis vulgaris von X-chromosomal rezessiver Ichthyose unterscheiden." pädiatrie: Kinder- und Jugendmedizin hautnah 27, S7 (August 2015): 6–10. http://dx.doi.org/10.1007/s15014-015-0454-4.

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Fedota, O. M., Yu O. Sadovnychenko, L. V. Roshchenyuk, V. M. Vorontsov, and P. P. Ryzhko. "Study of prevalence of different forms of ichthyosis in Kharkiv region." Faktori eksperimental'noi evolucii organizmiv 23 (September 9, 2018): 244–48. http://dx.doi.org/10.7124/feeo.v23.1022.

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Ichthyosis is genetically and clinically heterogenic group of epidermis keratinization disorders. Its prevalence is geographically different. Aim. The aim of this research was to evaluate ichthyosis prevalence in Kharkiv region. Methods. The collection of clinical-genealogical history was carried out by the method of single registration of the proband on the basis of the Regional Clinical Dermatological and Venereological Health Center No. 1 and the Dermatovenerological Health Centers of the Kharkiv Region in 2017. Results. The ichthyosis prevalence in Kharkiv region was 2.5·10–4 in 2017. The ichthyosis prevalence varied from 6.7∙10‑5 in Krasnohrad district to 1.0∙10‑3 in Dvorichna district. The least prevalence was in the population of Vovchansk city (1.1∙10‑4) and the highest one was in the population of Dvorichna city (10.7∙10‑4). The differences between the prevalence of ichthyosis vulgaris in Kharkiv region in 2008-2017 were established. Conclusions. It was found that the decrease of ichthyosis prevalence in Kharkiv region was 1.6 times during last 10 years. This index for ichthyosis vulgaris was decreased 1.9 times at the same period. Monogenic dermatoses, as an example of ichthyosis, can be used both to monitor the burden of genetic disorders in the region and to solve the problems of general and personal genetic safety in the population. Keywords: ichthyosis vulgaris, X-linked recessive ichthyosis, prevalence.
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Rabinowitz, L. G., and N. B. Esterly. "Atopic Dermititis and Ichthyosis Vulgaris." Pediatrics in Review 15, no. 6 (June 1, 1994): 220–26. http://dx.doi.org/10.1542/pir.15-6-220.

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Dissertations / Theses on the topic "Ichthyosis vulgaris"

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Sturesdotter, Hoppe Torborg. "Skin Barrier Function and mRNA Expression Profiles in Patients with Atopic Dermatitis, Ichthyosis Vulgaris, and X-linked Recessive Ichthyosis : Aetiopathogenic Differences and the Impact of Moisturizing Treatment." Doctoral thesis, Uppsala universitet, Dermatologi och venereologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-192396.

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Atopic dermatitis (AD), ichthyosis vulgaris (IV), and X-linked recessive ichthyosis (XLRI) are characterized by dry skin and impaired skin barrier. AD and IV are related to loss-of-function mutations in FLG (encoding filaggrin), whereas XLRI is caused by deletions or inactivating mutations in the steroid sulphatase gene (STS). Patients regularly use moisturizing creams, but little is known about the creams’ effects on the skin barrier. The present work combines objective scorings, non-invasive techniques, and molecular analyses of skin biopsies to characterize the skin in 57 patients with AD, IV, or XLRI, and in 14 healthy controls. Patients were classified according to their FLG and STS mutation status: AD with FLG+/+ (n = 14), AD with FLG+/– (n = 14), AD/IV with FLG–/– (n = 15), and XLRI with STS– (n = 14), as well as one man with a novel point mutation. Assessments were conducted at baseline and after four weeks of treatment with three different moisturizers applied to volar forearm skin. At baseline, dryness scoring and non-invasive assessments verified impaired skin barrier function in all patients. In patients with AD/IV, microarray analysis identified 300–3000 up- or downregulated mRNA transcripts involved in signalling pathways important for inflammation and barrier repair. The skin phenotype and number of altered transcripts were correlated with the FLG mutation status, with FLG–/– patients displaying the highest transepidermal water loss (TEWL) and the most altered transcript levels. In contrast, despite an equally dysfunctional skin barrier, only limited changes in mRNA transcripts occurred in XLRI patients. Treatment with moisturizers improved skin dryness similarly in all groups, but TEWL behaved differently: it decreased slightly in the AD/IV group and increased in the XLRI group, especially after urea treatment. Only minute effects on skin pH and mRNA expression were observed. In conclusion, FLG mutations elicit pro-inflammatory mechanisms probably aimed at restoring barrier competence. This does not occur in patients with XLRI, presumably because STS deficiency automatically increases the barrier thickness. Moisturizing treatment improves skin dryness in patients with AD, IV, or XLRI, but does not seem to normalize the altered epidermal gene expression profile in AD/IV patients.
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Books on the topic "Ichthyosis vulgaris"

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Sybert, Virginia P. Disorders of The Epidermis: Differentiation and Kinetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0002.

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Ichthyoses – Bullous Congenital Ichthyosiform Erythroderma – Continual Peeling Skin – Harlequin Fetus – Ichthyosis Bullosa of Siemens – Ichthyosis Hystrix – Ichthyosis Vulgaris – Lamellar Exfoliation of the Newborn – Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma – Netherton Syndrome – Restrictive Dermopathy – X-linked Recessive Ichthyosis – Erythrokeratodermas – Erythrokeratodermia Variabilis – Pityriasis Rubra Pilaris – Progressive Symmetric Erythrokeratoderma – Acrokeratoderma – Acrokeratoelastoidosis – Acrokeratosis Verruciformis (HOPF) – Hereditary Palmoplantar Keratodermas – Hereditary Palmoplantar Keratoderma with Deafness – Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis – Hereditary Palmoplantar Keratoderma Howel-Evans – Hereditary Palmoplantar Keratoderma Olmsted – Hereditary Palmoplantar Keratoderma Punctate – Hereditary Palmoplantar Keratoderma Striata – Hereditary Palmoplantar Keratoderma Unna-Thost – Hereditary Palmoplantar Keratoderma Vohwinkel – Keratolytic Winter Erythema – Mal de Meleda – Papillon-Lefèvre – Scleroatrophic and Keratotic Dermatosis of the Limbs – Porokeratoses – Porokeratosis of Mibelli – Other Disorders of the Epidermis – Absence of Dermatoglyphics – Acanthosis Nigricans – Darier-White Disease – Hereditary Painful Callosities – Keratosis Follicularis Spinulosa Decalvans – Knuckle Pads – Kyrle/Flegel Disease – Ulerythema Ophryogenes – Syndromic Disorders – CHILD Syndrome – Chondrodysplasia Punctata – Ichthyosis with Hypogonadism – KID Syndrome – Neu-Laxova Syndrome – Neutral Lipid Storage Disease with Ichthyosis – Refsum Disease – Richner-Hanhart Syndrome – Sjögren-Larsson Syndrome – Cohesion – Epidermolysis Bullosa – Epidermolysis Bullosa Simplex Dowling-Meara – Epidermolysis Bullosa Simplex Generalized – Epidermolysis Bullosa Simplex Localized – Epidermolysis Bullosa Junctional Generalized – Epidermolysis Bullosa Junctional Generalized Atrophic Benign – Epidermolysis Bullosa Dystrophica Cockayne-Touraine – Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens – Epidermolysis Bullosa Dystrophica Pretibial – Transient Bullous Dermolysis of the Newborn – Hailey-Hailey Disease
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Sybert, Virginia P. Disorders of the Epidermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0002.

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Chapter 2 covers Ichthyoses (Bullous Congenital Ichthyosiform Erythroderma, Harlequin Ichthyosis, Ichthyosis Bullosa of Siemens, Ichthyosis Hystrix, Ichthyosis Vulgaris, Lamellar Exfoliation of the Newborn, Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma, Netherton Syndrome, Peeling Skin Syndrome, Restrictive Dermopathy, and X-linked Recessive Ichthyosis), Erythrokeratodermas (Erythrokeratodermia Variabilis ET PROGESSIVA, and Pityriasis Rubra Pilaris), Acrokeratoderma (Acrokeratoelastoidosis, Acrokeratosis Verruciformis (HOPF)), Hereditary Palmoplantar Keratodermas (Hereditary Palmoplantar Keratoderma with Deafness, Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis, Hereditary Palmoplantar Keratoderma Howel-Evans, Hereditary Palmoplantar Keratoderma Olmsted, Hereditary Palmoplantar Keratoderma Punctate, Hereditary Palmoplantar Keratoderma Striata, Hereditary Palmoplantar Keratoderma Unna-Thost, Hereditary Palmoplantar Keratoderma Vohwinkel, Keratolytic Winter Erythema, Mal de Meleda, Papillon-Lefèvre, Scleroatrophic and Keratotic Dermatosis of the Limbs), Porokeratoses (Porokeratosis of Mibelli), Other Disorders of the Epidermis (Absence of Dermatoglyphics, Acanthosis Nigricans, Darier-White Disease, Hereditary Painful Callosities, Keratosis Follicularis Spinulosa Decalvans, Knuckle Pads, Kyrle/Flegel Disease, Ulerythema Ophryogenes), Syndromic Disorders (CHILD Syndrome, Chondrodysplasia Punctata, Ichthyosis with Hypogonadism, KID Syndrome, Neu-Laxova Syndrome, Neutral Lipid Storage Disease with Ichthyosis, Refsum Disease, Richner-Hanhart Syndrome, Sjögren-Larsson Syndrome), Cohesion (Epidermolysis Bullosa, Epidermolysis Bullosa Simplex Dowling-Meara, Epidermolysis Bullosa Simplex Generalized, Epidermolysis Bullosa Simplex Localized, Epidermolysis Bullosa Junctional Generalized, Epidermolysis Bullosa Junctional Generalized Atrophic Benign, Epidermolysis Bullosa Dystrophica Cockayne-Touraine, Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens, Epidermolysis Bullosa Dystrophica Pretibial, Transient Bullous Dermolysis of the Newborn, Hailey-Hailey Disease). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
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Book chapters on the topic "Ichthyosis vulgaris"

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Gartler, Stanley M., R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, et al. "Ichthyosis Vulgaris." In Encyclopedia of Molecular Mechanisms of Disease, 1021–22. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_921.

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Traupe, Heiko. "Autosomal Dominant Ichthyosis Vulgaris." In The Ichthyoses, 45–53. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-73650-6_5.

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Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Autosomal Dominant Ichthyosis Vulgaris." In Encyclopedia of Molecular Mechanisms of Disease, 195–96. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8929.

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Talasila, Sreya, and Amy S. Paller. "Ichthyosis Vulgaris and Other Disorders of Cornification." In Filaggrin, 223–34. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-54379-1_21.

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Reißer, Ch, H. Enzmann, E. Schleiermacher, and I. Anton-Lamprecht. "Ozaena und allergische Rhinitis bei Ichthyosis vulgaris." In Teil II: Sitzungsbericht, 89–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-642-84310-5_70.

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Simon, Jessica, and Robert Buka. "Ichthyosis Vulgaris." In Atopic Dermatitis and Eczematous Disorders, 351–56. CRC Press, 2014. http://dx.doi.org/10.1201/b16138-23.

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Aggarwal, Ashok. "Ichthyosis Vulgaris." In Histopathology of the Skin, 229. Jaypee Brothers Medical Publishers (P) Ltd., 2007. http://dx.doi.org/10.5005/jp/books/10354_47.

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"Ichthyosis vulgaris." In Dermatology Therapy, 303. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_1404.

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"Dry skin disorders." In Paediatric Dermatology, edited by Sue Lewis-Jones and Ruth Murphy, 403–16. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198821304.003.0027.

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This chapter on dry skin disorders describes a range of mainly genetic dermatoses whose predominant feature is dry scaly skin. It excludes conditions such as eczema where dry skin is a secondary clinical sign. The underlying mechanism of dry scaly skin is briefly discussed and an algorithm points to possible diagnoses. The focus is on the genetic ichthyoses, defined as congenital, lifelong, generalized dry and scaly skin. The common ichthyoses are non-inflammatory (ichthyosis vulgaris and X-linked recessive ichthyosis) but there are several inflammatory ichthyoses, some associated with fragile skin (blistering) and several with multisystem complications, such as Netherton syndrome. Salient features of each are reviewed with illustrations of selected cases and management is outlined. Two important neonatal presentations, collodion baby and harlequin ichthyosis, are described.
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"Hereditary ichthyosis vulgaris." In Dermatology Therapy, 281. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_1296.

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