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Case Reports
. 2023 Nov 22;10(4):335-338.
doi: 10.1055/s-0043-1776983. eCollection 2023 Dec.

Severe Hypernatremia as Presentation of Netherton Syndrome

A Di Nora  1 , M C Consentino  1 , G Messina  1 , T Timpanaro  1 , P Smilari  1 , P Pavone  1
Affiliations
Case Reports

Severe Hypernatremia as Presentation of Netherton Syndrome

A Di Nora et al. Glob Med Genet. .

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: Trichorrhexis invaginata; genodermatosis; hypernatremia.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Proposal of a flowchart in cases of neonatal hypernatremia. ECF, extracellular fluid; FeNa, fractional excretion of sodium.
Fig. 2
Fig. 2
Modified from SFARI genes, you can see SPINK5 involved with high confidence.
See this image and copyright information in PMC

References

    1. Mallory S B, Krafchik B R. What syndrome is this? Pediatr Dermatol. 1992;2:157–160. - PubMed
    1. Roda Â, Mendonça-Sanches M, Travassos A R, Soares-de-Almeida L, Metze D. Infliximab therapy for Netherton syndrome: a case report. JAAD Case Rep. 2017;3(06):550–552. - PMC - PubMed
    1. Shi Z R, Xu M, Tan G Z, Wang L, Guo Q, Tang Z Q. A case of Netherton syndrome with mutation in SPINK5 and FLG. Eur J Dermatol. 2017;27(05):536–537. - PubMed
    1. Briot A, Lacroix M, Robin A, Steinhoff M, Deraison C, Hovnanian A. Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. J Invest Dermatol. 2010;130(12):2736–2742. - PubMed
    1. Comel M. [Ichthyosis linearis circumflexa] Dermatologica. 1949;98(03):133–136. - PubMed

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