A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis

Francesca Caroppo; Elena Cama; Roberto Salmaso; Cinzia Bertolin; Leonardo Salviati; Anna Belloni Fortina

doi:10.1002/ccr3.3341

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis

Clin Case Rep. 2020 Sep 18;8(12):3079-3081. doi: 10.1002/ccr3.3341. eCollection 2020 Dec.

Authors

Francesca Caroppo¹, Elena Cama¹, Roberto Salmaso², Cinzia Bertolin³, Leonardo Salviati³, Anna Belloni Fortina¹

Affiliations

¹ Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy.
² Surgical Pathology & Cytopathology Unit Department of Medicine DIMED University of Padova Padova Italy.
³ Clinical Genetics Unit Department of Women's and Children's Health IRP Città della Speranza University of Padova Padova Italy.

Abstract

Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.

Keywords: KRT1 gene; epidermolytic hyperkeratosis; epidermolytic ichthyosis; novel mutation.

Publication types

Case Reports