European Journal of Pediatrics

, 165:594

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

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

DOI: 10.1007/s00431-006-0141-0

Cite this article as:
Kilic, G., Guler, N., Ones, U. et al. Eur J Pediatr (2006) 165: 594. doi:10.1007/s00431-006-0141-0

Abstract

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.

Keywords

Atopic dermatitisChildrenNetherton syndromeTrichorrhexis invaginata

Abbreviations

CIE

Congenital ichthyosiform erythroderma

ILC

Ichthyosis linearis circumflexa

LEKTI

Lymphoepithelial Kazal-type related inhibitor

NS

Netherton syndrome

TI

Trichorrhexis invaginata

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