Abstract

DE FRANCO, Micaela et al. Epidermolytic ichthyosis in newborns. Clinical case study. Arch. Pediatr. Urug. [online]. 2024, vol.95, n.1, e306.  Epub June 01, 2024. ISSN 0004-0584.  https://doi.org/10.31134/ap.95.1.13.

Epidermolytic ichthyosis is a rare genodermatosis with autosomal dominant inheritance, which requires timely diagnosis, ideally prenatal diagnosis, in order to provide adequate neonatal care, start early treatment and thus reduce morbidity and mortality. It is characterized by the formation of blisters, multiple erosions and scaling with erythroderma from birth. All types of keratinopathic ichthyoses are caused by mutations in the genes of the keratin family KRT1, KRT2 and KRT10. We present the clinical case of a 9-day-old newborn from the interior of the country, with diagnosis and family history of epidermolytic ichthyosis. The interest of this publication lies in the description of a low-frequency genodermatosis, recognizing the importance of early diagnosis, understanding the management, complications and highlighting the importance of a multidisciplinary care team integrated by a neonatologist, dermatologists, geneticists and pediatricians.

Keywords : Ichthyosis; Skin; Newborn.

        · abstract in Spanish | Portuguese     · text in Spanish     · Spanish ( pdf )