Article
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology (Basel, Switzerland) - 1 Jan 2024
Diociaiuti Andrea, Corbeddu Marialuisa, Rossi Sabrina, Pisaneschi Elisa, Cesario Claudia, Condorelli Angelo Giuseppe, Samela Tonia, Giancristoforo Simona, Angioni Adriano, Zambruno Giovanna, Novelli Antonio, Alaggio Rita, Abeni Damiano, El Hachem May
Abstract excerpt
BACKGROUND: Autosomal recessive congenital ichthyoses (ARCIs) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic, and ultrastructural features and to evaluate their association with genetic findings in ARCI patients. METHODS: Clinical signs and symptoms,...
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