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Netherton Syndrome

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
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Abstract

Netherton Syndrome (NS) is an uncommon genodermatosis. It is caused by a loss-of-function mutation in serine protease inhibitor of kazal type 5 (SPINK5). The SPINK5 gene encodes lymphoepithelial kazal type related inhibitor type 5 (LEKTI), which is a serine protease inhibitor that is expressed in all stratified epithelia as well as in the thymus [1].

References

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    Bolognia J, Jorizzo J, Schaffer J. Dermatology. 3rd ed. London: Elsevier; 2012.Google Scholar
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    Renner ED, Hartl D, Rylaarsdam S, et al. Comel-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol. 2009;124(3):536–43.CrossRefGoogle Scholar
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    Fontao L, Laffitte E, Briot A, et al. Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin. J Invest Dermatol. 2011;131(9):1947–50.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

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