Netherton Syndrome

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


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].


  1. 1.
    Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013;351(2):289–300.CrossRefGoogle Scholar
  2. 2.
    Bolognia J, Jorizzo J, Schaffer J. Dermatology. 3rd ed. London: Elsevier; 2012.Google Scholar
  3. 3.
    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
  4. 4.
    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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