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Hereditary acrokeratotic poikiloderma

ORPHA:2907 · Disease · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(16)

  • Abnormal blistering of the skinHP:0008066
  • Dystrophic fingernailsHP:0008391
  • Dystrophic toenailHP:0001810
  • Eczematoid dermatitisHP:0000964
  • ErythemaHP:0010783
  • GingivitisHP:0000230
  • Hypopigmented skin patchesHP:0001053
  • IchthyosisHP:0008064
  • Irregular hyperpigmentationHP:0007400
  • Nail dystrophyHP:0008404
  • PapuleHP:0200034
  • Premature loss of primary teethHP:0006323
  • PustuleHP:0200039
  • Telangiectasia of the skinHP:0100585
  • Thin skinHP:0000963
  • UrticariaHP:0001025

Frequent (79-30%)(12)

  • Abnormal pigmentation of the oral mucosaHP:0100669
  • Abnormal preputium morphologyHP:0100587
  • Abnormal skull morphologyHP:0000929
  • Abnormality of the dentitionHP:0000164
  • AnkyloglossiaHP:0010296
  • Gingival bleedingHP:0000225
  • Narrow mouthHP:0000160
  • Oral leukoplakiaHP:0002745
  • Palmoplantar hyperkeratosisHP:0000972
  • Skin ulcerHP:0200042
  • TurricephalyHP:0000262
  • XerostomiaHP:0000217

Occasional (29-5%)(19)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal renal tubule morphologyHP:0000091
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the gastrointestinal tractHP:0011024
  • Abnormality of the skeletal systemHP:0000924
  • Abnormality of the urethraHP:0000795
  • Camptodactyly of fingerHP:0100490
  • EctropionHP:0000656
  • Finger syndactylyHP:0006101
  • Hearing impairmentHP:0000365
  • Joint hypermobilityHP:0001382
  • KeratoconjunctivitisHP:0001096
  • Opacification of the corneal stromaHP:0007759
  • Open biteHP:0010807
  • Short statureHP:0004322
  • Squamous cell carcinomaHP:0002860
  • Transitional cell carcinoma of the bladderHP:0006740
  • TrismusHP:0000211