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CC BY 4.0 · Glob Med Genet 2023; 10(04): 335-338
DOI: 10.1055/s-0043-1776983
Case Report

Severe Hypernatremia as Presentation of Netherton Syndrome

A. Di Nora
1   Department of Clinical and Experimental Medicine, University of Catania, Catania CT, Italy
,
M.C. Consentino
1   Department of Clinical and Experimental Medicine, University of Catania, Catania CT, Italy
,
G. Messina
1   Department of Clinical and Experimental Medicine, University of Catania, Catania CT, Italy
,
T. Timpanaro
1   Department of Clinical and Experimental Medicine, University of Catania, Catania CT, Italy
,
P. Smilari
1   Department of Clinical and Experimental Medicine, University of Catania, Catania CT, Italy
,
P. Pavone
1   Department of Clinical and Experimental Medicine, University of Catania, Catania CT, Italy
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Abstract

Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for failure to thrive and feeding difficulties. At birth, the infant was admitted to intensive care for severe hypernatremia (natremia 186 mg/dL). Upon entering the ward, the general conditions were poor. He presented with diffuse erythrodermia. A dermatological evaluation showed evidence of “invaginated trichuriasis,” a typical sign of Netherton syndrome. Netherton syndrome is caused by a genetic mutation causing loss of function of the SPINK5 gene it encodes for the LEKTI protein, normally expressed in epithelia. Loss of LEKTI induces severe skin barrier defect. The history of the disease is characterized by serious potential complications in the first months of life, such as the risk of hypernatremic dehydration induced by high skin permeability, recurrent and/or severe infections, and growth retardation.

Keywords

hypernatremia - genodermatosis - Trichorrhexis invaginata


Publication History

Article published online:
22 November 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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