Ichthyosis Vulgaris Research Articles

Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.

Background:Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India.Aims and Objectives:The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses.Materials and Methods:The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features.Results:During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified.Conclusion:Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.

Autosomal Dominant Lamellar Ichthyosis in a Cameroonian Family

Ichthyosis encompasses genetic disorders linked to disorders of skin differentiation, but can also be acquired. Neonatal Congenital Ichthyosis which, major risk is predisposition to infections due to inefficient cutaneous barrier, has many sub-type including lamellar Ichthyosis. Although the most described mode of inheritance is the recessive one, few cases of Autosomal Dominant Lamellar Ichthyosis (ADLI) are encountered in literature. Here we describe a similar mode in a Cameroonian family.

A Case Report on Congenital Ichthyosis - Collodion Baby

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

The Influence of Two Different Foam Creams on Skin Barrier Repair of Foot Xerosis: A Prospective, Double-Blind, Randomised, Placebo-Controlled Intra-Individual Study

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). Methods: Skin barrier integrity was measured by morphometric analysis of the lipid lamellae in the SC after 4 weeks of treatment with a foam cream (active agent vs. placebo). Results: Significant treatment effects were shown after 2 and 4 weeks by an increasing amount of intercellular lipids in the SC. Conclusion: This study shows that a quick reorganisation of the SC lipids initiates a good restoration of the whole skin barrier after 4 weeks of treatment with a foam cream.

Alterations in Epidermal Eicosanoid Metabolism Contribute to Inflammation and Impaired Late Differentiation in FLG-Mutated Atopic Dermatitis

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. Ultrastructural analyses demonstrated abnormal stratum corneum lipid architecture in AD and IV HEEs, independent of FLG genotype. Both AD (FLG/WT) and IV (FLG/FLG) HEEs showed impaired late epidermal differentiation. Only AD (FLG/WT) HEEs exhibited significantly increased levels of inflammatory cytokines. Analyses of lipid mediators revealed increased arachidonic acid and 12-lipoxygenase metabolites. Whereas treatment of control HEEs with arachidonic acid increased expression of inflammatory cytokines, 12-hydroxy-eicosatetraenoic acid attenuated expression of late differentiation markers. Thus, FLG mutations lead to alterations in epidermal eicosanoid metabolism that could serve as an autocrine trigger of inflammation and impaired late epidermal differentiation in AD.

Bioinformatics Approach towards Transcriptomics of Filaggrin

Filaggrin, or filaments which combines protein, is one of the important structural protein that works for the development, maintenance, and the formation of the skin as an intact barrier. Filaggrin breakdown products regulate the hydration of the skin; contribute to the acidic pH of the skin, which in turn is essential for the activity of various proteases in the stratum corneum desquamation and lipid synthesis. Filaggrin produced by keratinocytes granular as a major precursor called profilaggrin, encoded by the FLG gene, located in the epidermal differentiation complex on chromosome 1 (1q21 locus). The locus contains a group of genes involved in epidermal differentiation. Filaggrin deficiency has some consequences on the organization and function of epidermal with important implications such as increased risk for atopic disease or a microbial infection. FLG mutation, a gene that encodes filaggrin, has been shown to cause ichthyosis vulgaris, increasing the risk of atopic dermatitis and other atopic diseases. This research examined the FLG gene based bioinformatics approach to search for conserved region of representative mammals that encode coding (m) and non-coding (nc) RNAs. Expected mRNA expression can be used as a diagnostic and therapeutic agent against deficiencies and filaggrin mutations.Key words: filaggrin, FLG, profilaggrin, filaggrin deficiency, bioinformatics.

Gram-positive anaerobe cocci are underrepresented in the microbiome of filaggrin-deficient human skin

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

Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris

To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris. 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. 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. The c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.

Filaggrin gene mutations and new SNPs in asthmatic patients: a cross-sectional study in a Spanish population.

BackgroundSeveral 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.MethodsFour 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. The coding region and flanking regions of the FLG gene were amplified by PCR. We proceeded to the characterization of potential gene variants in that region by RFLP and sequencing and analysed their association with lung function parameters, asthma control and severity, and quality of life.ResultsWe identified two null-mutations (R501X and 2282del4), seven SNPs previously described in databases and three SNPs that had not been previously described. One of the SNP identified in this study (1741A > T) was more frequently detected in patients with non-allergic asthma, worse FVC, FEV1 and PEF values and a higher treatment step. In addition, lowered spirometric values were observed in the non-allergic group carrying any of the nonsynonymous SNPs.ConclusionsIn the association study of genetic variants of the FLG gene in our population the 1741A > T polymorphism seems to be associated with non-allergic asthma.

Clinical characteristics of Korean patients with filaggrin-related atopic dermatitis.

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). 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. 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. We found that earlier age of AD onset (P < 0.05), tendency to respiratory atopy (P = 0.03), more severe clinical characteristics of AD (higher Eczema Area and Severity Index, P = 0.02) and decrease in skin hydration (P = 0.04) were associated with FLG-related AD. Our data demonstrate that FLG mutations are indicators of a poor prognosis in AD, and are predisposing factors that exist in early infancy and persist into adulthood.

Review of Critical Issues in the Pathogenesis of Atopic Dermatitis.

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. Semin Cutan Med Surg 35(supp5):S89-S91.

11 cases of ichthyosis vulgaris from a family

11 cases of ichthyosis vulgaris from a family

ПОЛИМОРФИЗМ ГЕНА FLG У БОЛЬНЫХ ИХТИОЗОМ ПРОСТЫМ

ПОЛИМОРФИЗМ ГЕНА FLG У БОЛЬНЫХ ИХТИОЗОМ ПРОСТЫМ

Inherited ichthyosis: Non-syndromic forms.

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. This review focuses on updates for each type of non-syndromic ichthyosis, highlighting molecular mechanisms and phenotype/genotype correlations. Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma) and three of the minor subtypes (self-healing collodion baby, acral self-healing collodion baby and bathing suit ichthyosis). Keratinopathic ichthyosis is proposed as an umbrella term for ichthyoses caused by mutations in keratin genes. Next-generation sequencing technologies have become powerful tools for the diagnosis of inherited ichthyoses and the discovery of their genetic causes. This article reviews the current understanding of molecular pathomechanisms for non-syndromic ichthyoses and explores future perspectives.

Filaggrin genotype does not determine the skin's threshold to UV-induced erythema

Filaggrin genotype does not determine the skin's threshold to UV-induced erythema

A Case of Ichthyosis Vulgaris and Its Dental Manifestations

Ichthyosis vulgaris is a cornification disorder that is characterized by accumulation of hyperkeratotic fish like scales on the skin surface. It is clinically characterized by scaling, especially on the flexor limbs, with palm plantar hyper linearity. This paper illustrates dermatological as well as dental manifestations of a 14 year old boy affected with ichthyosis vulgaris which makes this case very much unique.

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

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. In comparison to other sequencing methods, the overlapping long-range PCR was used. We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. By using FLG sequencing techniques confirmed in this study, new mutations or genetic polymorphisms with ethnic characteristics would be detected and further larger studies of repeat number polymorphisms could be performed.

Prevalence of atopic dermatitis, ichthyosis and filaggrin mutations in adolescents in a middle school in Shanghai

Objective To investigate the prevalence and progression process of atopic diseases in adolescents, and to assess their relationship with filaggrin (FLG) mutations. Methods Totally, 334 adolescents aged from 11 to 19 years in a middle school in shanghai were enrolled into this study. A clinical interview was carried out to determine the prevalence of atopic diseases (such as ichthyosis, atopic dermatitis (AD), asthma, rhinitis, etc) in these subjects. Peripheral blood samples were collected from 285 out of the 334 adolescents for screening for common FLG mutations, including 3321delA and K4671X. Five years later, these adolescents were followed up for reevaluation of clinical presentations of atopic diseases. Statistical analysis was carried out by the chi-square test with the SPSS 20.0 software. Results As the baseline survey showed, 19 (5.69%) of the 334 adolescents had AD, 14 (4.19%) had ichthyosis vulgaris, 36 (10.78%) had allergic rhinitis, and 4 (1.20%) had asthma. FLG mutations were observed in 24 (8.42%) of the 285 adolescents. Five years later, 265 adoscents completed the follow-up, and 69 (20.66%) were lost to follow-up. Of the 265 adolescents reevaluated, 13 (4.89%) had AD, 15 (5.64%) had ichthyosis vulgaris, 27 (10.15%) had allergic rhinitis, and 1 (0.38%) had asthma. By the time the second survey was performed, 6 out of the 19 patients initially diagnosed with AD had achieved complete regression, 13 had experienced a marked decrease in SCORing atopic dermatitis (SCORAD) score, and symptoms had disappeared in 9 of the 36 patients initially diagnosed with allergic rhinitis. The frequency of FLG mutations was 10.0% in patients with AD, 55.6% in those with ichthyosis, and 40.0% in those with both AD and ichthyosis, and the development of ichthyosis was associated with FLG mutations (P< 0.001). Conclusions The frequency of common FLG mutations was 8.42% in these adolescents. FLG gene may be a semidominant gene associated with ichthyosis vulgaris, and multiple factors influence its expression. Key words: Dermatitis, atopic; Ichthyosis vulgaris; Adolescent; Mutation; Genes, filaggrin

Clinical Effectiveness of Moisturizers in Atopic Dermatitis and Related Disorders: A Systematic Review.

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. 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. Studies indexed in MEDLINE and/or Embase before 16 January 2015. Controlled clinical studies comparing the clinical effect of a moisturizer against its vehicle, another moisturizer, or no treatment were eligible. For the outcomes transepidermal water loss (TEWL) and stratum corneum hydration, uncontrolled before-after designs were also eligible. Participants were patients with AD, irritant hand dermatitis, and/or ichthyosis vulgaris. Out of the 595 publications initially identified, 45 (48 studies, 3262 patients) were eligible for inclusion. A vast majority of studies indicate that moisturizers have beneficial effects on clinical symptoms [SCORAD (SCORing Atopic Dermatitis) reductions ranging from 0 to 2.7 points], TEWL (range 0 to -12.2 g/m(2)h) and stratum corneum hydration (range +8 to +100%). Direct comparisons between individual moisturizers are still scarce, but the clinical effect appears to be much more well-documented for urea and glycerin than, for example, propylene glycol, lactate, ceramide, and aluminum chlorohydrate. Compared with urea studies, glycerin studies were more often associated with a high risk of bias. Due to differences in study designs and outcome measures, a quantitative meta-analytic approach was not deemed feasible, and formal indicators of publication bias such as funnel plots could not be used. However, a large number of moderately sized studies with positive outcomes could be compatible with selective publishing of favourable results. The clinical effect of moisturizers is well-documented. Urea-based preparations may be preferable as a first-line treatment, but there is an unmet need for well-powered comparisons between individual moisturizers.

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis