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

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.
AuthorsGurkan Kilic, Nermin Guler, Ulker Ones, Zeynep Tamay, Pinar Guzel
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 165 Issue 9 Pg. 594-7 (Sep 2006) ISSN: 0340-6199 [Print] Germany
PMID16670861 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Biomarkers
  • Carrier Proteins
  • Proteinase Inhibitory Proteins, Secretory
  • SPINK5 protein, human
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Immunoglobulin E
Topics
  • Biomarkers (blood)
  • Carrier Proteins (genetics)
  • Child, Preschool
  • Dermatitis, Atopic (blood, genetics, pathology)
  • Diseases in Twins
  • Egg Hypersensitivity (pathology)
  • Female
  • Humans
  • Ichthyosiform Erythroderma, Congenital (pathology)
  • Immunoglobulin E (blood)
  • Milk Hypersensitivity (pathology)
  • Mutation (genetics)
  • Proteinase Inhibitory Proteins, Secretory
  • Pruritus (pathology)
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Severity of Illness Index
  • Syndrome
  • Twins, Monozygotic

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