Severe Hypernatremia as Presentation of Netherton Syndrome

November 2023 in “ Global Medical Genetics ”

Alessandra Di Nora, Maria Chiara Consentino, Gabriele Messina, Tiziana Timpanaro, Pierluigi Smilari, Piero Pavone

Netherton syndrome congenital ichthyosis immune dysregulation scalp anomalies invaginated trichuriasis SPINK5 gene LEKTI protein skin barrier defects hypernatremic dehydration ichthyosis immune system issues scalp problems trichuriasis SPINK5 LEKTI skin barrier problems dehydration

Studysummary This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

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