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

KILIÇ G., Guler N., ONES U., Tamay Z. Ü., GUZEL P.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.165, sa.9, ss.594-597, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 165 Sayı: 9
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1007/s00431-006-0141-0
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.594-597
  • Anahtar Kelimeler: atopic dermatitis, children, netherton syndrome, trichorrhexis invaginata, INFANTILE ERYTHRODERMAS, SPINK5, GENE, POLYMORPHISMS, ASSOCIATION, POPULATION, ASTHMA, HAIR, SKIN, IGE
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.