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Netherton syndrome

ORPHA:634 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(20)

  • Abnormal hairshaft morphologyHP:0003328
  • Atopic dermatitisHP:0001047
  • Brittle hairHP:0002299
  • Congenital nonbullous ichthyosiform erythrodermaHP:0007479
  • Eczematoid dermatitisHP:0000964
  • ErythemaHP:0010783
  • Fine hairHP:0002213
  • Food allergyHP:0500093
  • HypergranulosisHP:0025114
  • HyperkeratosisHP:0000962
  • Immunologic hypersensitivityHP:0100326
  • Increased circulating IgE concentrationHP:0003212
  • Irregular hyperpigmentationHP:0007400
  • PruritusHP:0000989
  • Recurrent infectionsHP:0002719
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Skin rashHP:0000988
  • Sparse eyebrowHP:0045075
  • Sparse scalp hairHP:0002209
  • Trichorrhexis invaginataHP:0025811

Frequent (79-30%)(9)

  • Acanthosis nigricansHP:0000956
  • AsthmaHP:0002099
  • Generalized scalingHP:0025809
  • Global developmental delayHP:0001263
  • Ichthyosis linearis circumflexaHP:0025810
  • Increased total eosinophil countHP:0001880
  • Pili tortiHP:0003777
  • Sparse eyelashesHP:0000653
  • Trichorrhexis nodosaHP:0009886

Occasional (29-5%)(11)

  • AngioedemaHP:0100665
  • Chronic diarrheaHP:0002028
  • Dry skinHP:0000958
  • EmphysemaHP:0002097
  • Failure to thrive in infancyHP:0001531
  • Hypernatremic dehydrationHP:0004906
  • Impaired specific antibody responseHP:0012475
  • Intellectual disabilityHP:0001249
  • MalabsorptionHP:0002024
  • Short statureHP:0004322
  • UrticariaHP:0001025

Very rare (<4-1%)(4)

  • Alopecia totalisHP:0007418
  • AminoaciduriaHP:0003355
  • Neonatal sepsisHP:0040187
  • Neoplasm of the skinHP:0008069