0000000000390836

AUTHOR

Mario Cutrone

showing 2 related works from this author

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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Papulo-purpuric dermatitis of childhood: a distinct PLEVA-like eruption associated to SARS-CoV-2 infection. Clinical, histopathological and immunohis…

2021

Abstract We observed ten children with a papular eruption with purpuric features during the SARS‐CoV‐2 pandemic in Northern Italy (May‐December 2020). Histological examination showed signs of SARS‐CoV‐2‐related dermatosis. Evidence of nucleocapsid viral proteins using SARS‐CoV‐2 (2019‐nCoV) nucleocapsid antibody revealed cuticular staining of the deep portion of the eccrine glands in all cases.

Pathologymedicine.medical_specialtySevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)virusesdermatopathology pediatric PLEVA SARS-CoV-2 skin histopathology Humans Pandemics SARS-CoV-2 COVID-19 Dermatitis PurpuraDermatitisDermatologySARS‐CoV‐2Eccrine glandMedicineHumansskin and connective tissue diseasesdermatopathologyPandemicsPurpuraHistological examinationbiologybusiness.industrySARS-CoV-2fungiskin histopathologyCOVID-19Original ArticlesNorthern italyStainingrespiratory tract diseasesbody regionspediatricPLEVAPediatrics Perinatology and Child Healthbiology.proteinImmunohistochemistryOriginal ArticleDermatopathologyAntibodybusiness
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