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Mutilating palmoplantar keratoderma with periorificial keratotic plaques

ORPHA:659 · Disease · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(9)

  • Abnormal fingernail morphologyHP:0001231
  • AnhidrosisHP:0000970
  • AnkylosisHP:0031013
  • ErythemaHP:0010783
  • Palmoplantar hyperhidrosisHP:0007410
  • Palmoplantar keratodermaHP:0000982
  • Skin fissureHP:0031057
  • Sparse hairHP:0008070
  • Thickened skinHP:0001072

Frequent (79-30%)(5)

  • Abnormality of the dentitionHP:0000164
  • Carious teethHP:0000670
  • HypodontiaHP:0000668
  • Sensorineural hearing impairmentHP:0000407
  • Skin ulcerHP:0200042

Occasional (29-5%)(9)

  • Abnormal oral mucosa morphologyHP:0011830
  • Abnormality of the gingivaHP:0000168
  • Abnormality of the tongueHP:0000157
  • AlopeciaHP:0001596
  • MelanomaHP:0002861
  • Neoplasm of the lungHP:0100526
  • Neoplasm of the skinHP:0008069
  • OsteolysisHP:0002797
  • SeizureHP:0001250