Original Paper

European Journal of Pediatrics

, Volume 165, Issue 9, pp 594-597

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

  • Gurkan KilicAffiliated withDivision of Pediatric Allergy and Chest Diseases, Department of Pediatrics, Istanbul University, Istanbul Medical School Email author 
  • , Nermin GulerAffiliated withDivision of Pediatric Allergy and Chest Diseases, Department of Pediatrics, Istanbul University, Istanbul Medical School
  • , Ulker OnesAffiliated withDivision of Pediatric Allergy and Chest Diseases, Department of Pediatrics, Istanbul University, Istanbul Medical School
  • , Zeynep TamayAffiliated withDivision of Pediatric Allergy and Chest Diseases, Department of Pediatrics, Istanbul University, Istanbul Medical School
  • , Pinar GuzelAffiliated withDepartment of Dermatology, Istanbul University, Istanbul Medical School

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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 dermatitis Children Netherton syndrome Trichorrhexis invaginata