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Keratoderma hereditarium mutilans with ichthyosis

ORPHA:79395 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(3)

  • Digital constriction ringHP:0010491
  • Generalized ichthyosisHP:0007503
  • Palmoplantar hyperkeratosisHP:0000972

Frequent (79-30%)(8)

  • Congenital nonbullous ichthyosiform erythrodermaHP:0007479
  • Honeycomb palmoplantar hyperkeratosisHP:0007465
  • HypergranulosisHP:0025114
  • HyperkeratosisHP:0000962
  • Knuckle padHP:0032541
  • Palmoplantar keratodermaHP:0000982
  • ParakeratosisHP:0001036
  • Scaling skin on fingertipHP:0025525

Occasional (29-5%)(5)

  • AlopeciaHP:0001596
  • Epidermal acanthosisHP:0025092
  • Nail dystrophyHP:0008404
  • OnychogryphosisHP:0001805
  • OrthokeratosisHP:0040162

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

  • Abnormality of the nervous systemHP:0000707

Excluded (0%)(1)

  • Sensorineural hearing impairmentHP:0000407