European Journal of Pediatrics

, 165:594 | Cite as

Netherton syndrome: report of identical twins presenting with severe atopic dermatitis

  • Gurkan Kilic
  • Nermin Guler
  • Ulker Ones
  • Zeynep Tamay
  • Pinar Guzel
Original Paper


We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis with intractable skin manifestations and multiple food allergies. Netherton syndrome (NS) (OMIM 256500) was suspected due to very high serum IgE levels, growth retardation, severe food allergies and typical hair finding (trichorrhexis invaginata). A definite diagnosis was made by genetic analysis. Our cases are unique in being the first identical twins with NS diagnosed by a novel mutation in the SPINK5 gene. NS should be considered in differential diagnosis in children who have generalized erythema with intractable eczematous lesions and elevated levels of IgE.


Atopic dermatitis Children Netherton syndrome Trichorrhexis invaginata 



Congenital ichthyosiform erythroderma


Ichthyosis linearis circumflexa


Lymphoepithelial Kazal-type related inhibitor


Netherton syndrome


Trichorrhexis invaginata


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Gurkan Kilic
    • 1
    • 3
  • Nermin Guler
    • 1
  • Ulker Ones
    • 1
  • Zeynep Tamay
    • 1
  • Pinar Guzel
    • 2
  1. 1.Division of Pediatric Allergy and Chest Diseases, Department of PediatricsIstanbul University, Istanbul Medical SchoolIstanbulTurkey
  2. 2.Department of DermatologyIstanbul University, Istanbul Medical SchoolIstanbulTurkey
  3. 3.IstanbulTurkey

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