Search results for "Congenital ichthyosis"

showing 3 items of 3 documents

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009

2010

Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification; typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. Objective: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. Methods: The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventua…

AdultMalemedicine.medical_specialtyCongenital ichthyosiform erythrodermaAdolescentautosomal recessive congenital ichthyosisDermatologySeverity of Illness Indexhistologymendelian disorders of cornificationYoung AdultCYP4F22Terminology as TopicCongenital ichthyosisMedicineHumansGenetic Predisposition to DiseasegeneticsABCA12Childbiologybusiness.industryIchthyosisInfant NewbornIchthyosisInfantkeratinopathic ichthyosisLamellar ichthyosisHarlequin IchthyosisCongresses as TopicIchthyosiform Erythroderma Congenitalepidermolytic ichthyosismedicine.diseasePrognosisDermatologyultrastructureGene Expression RegulationPractice Guidelines as Topicbiology.proteinFemaleDermatologic AgentsFrancesuperficial epidermolytic ichthyosisbusinessIchthyosis vulgarisJournal of the American Academy of Dermatology
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Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

2022

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…

MutationSerine EndopeptidasesInfant NewbornHigh-Throughput Nucleotide SequencingHumansATP-Binding Cassette TransportersAlopeciaGeneral MedicineKeratin-1Congenital ichthyosis Target NGS Harlequin ichtyosis Epidermolytic ichtyosis Autosomal recessive ichtyosis with hypotrichosis Case reportIchthyosis LamellarItalian journal of pediatrics
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Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis

2013

Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…

Pathologymedicine.medical_specialtyCongenital ichthyosiform erythrodermaDNA Mutational AnalysisBiologyModels BiologicalPolymorphism Single NucleotideUltrasonography PrenatalExonFatal OutcomePregnancyCongenital ichthyosisGeneticsmedicineHumansABCA12Sequence DeletionGeneticsInfant NewbornEctropionGeneral MedicineLamellar ichthyosisHarlequin Ichthyosismedicine.diseaseEclabiumbiology.proteinATP-Binding Cassette TransportersFemalemedicine.symptomIchthyosis LamellarGene
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