Literature DB >> 3718867

Neonatal hypernatraemia in two siblings with Netherton's syndrome.

S K Jones, L M Thomason, S K Surbrugg, W L Weston.   

Abstract

We report two siblings with Netherton's syndrome who developed hypernatraemia during the neonatal period. Although this is likely to have been due to trans-epidermal water loss in erythrodermic infants rather than to Netherton's syndrome specifically, this complication should be remembered in erythrodermic infants as a preventable cause of neonatal morbidity.

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Year:  1986        PMID： 3718867     DOI： 10.1111/j.1365-2133.1986.tb04885.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  6 in total

1.  Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Authors:  S Chavanas; C Garner; C Bodemer; M Ali; D H Teillac; J Wilkinson; J L Bonafé; M Paradisi; D P Kelsell; S i Ansai; Y Mitsuhashi; M Larrègue; I M Leigh; J I Harper; A Taïeb; Y d Prost; L R Cardon; A Hovnanian
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy.

Authors:  I Hausser; I Anton-Lamprecht; W Hartschuh; D Petzoldt
Journal:  Arch Dermatol Res       Date:  1989       Impact factor: 3.017

Review 3.  Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.

Authors:  Banu Bingol; Seval Tasdemir; Ziya Gunenc; Faruk Abike; Semra Esenkaya; Safak Tavukcuoglu; Hakan Berkil
Journal:  J Assist Reprod Genet       Date:  2011-05-04       Impact factor: 3.412

4.  Comèl-Netherton syndrome defined as primary immunodeficiency.

Authors:  Ellen D Renner; Dominik Hartl; Stacey Rylaarsdam; Marguerite L Young; Linda Monaco-Shawver; Gary Kleiner; M Louise Markert; E Richard Stiehm; Bernd H Belohradsky; Melissa P Upton; Troy R Torgerson; Jordan S Orange; Hans D Ochs
Journal:  J Allergy Clin Immunol       Date:  2009-08-14       Impact factor: 10.793

5.  Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome.

Authors:  Sukalp Muzumdar; Michael Koch; Hayley Hiebert; Andreas Bapst; Alessia Gravina; Wilhelm Bloch; Hans-Dietmar Beer; Sabine Werner; Matthias Schäfer
Journal:  Dis Model Mech       Date:  2020-06-01       Impact factor: 5.758

6.  A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Authors:  E Erden; A C Ceylan; S Emre
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  6 in total

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