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Localized scleroderma

ORPHA:90289 · Disease · Disorder

HPO 表現型(共 55 項)

Very frequent (99-80%)(1)

  • Thickened skinHP:0001072

Frequent (79-30%)(4)

  • ArthralgiaHP:0002829
  • Cutaneous sclerotic plaqueHP:0031359
  • Localized skin lesionHP:0011355
  • Stiff skinHP:0030053

Occasional (29-5%)(28)

  • Abnormal cheek morphologyHP:0004426
  • Abnormal facial skeleton morphologyHP:0011821
  • Abnormal upper lip morphologyHP:0000177
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the musculoskeletal systemHP:0033127
  • Abnormality of visionHP:0000504
  • ArthritisHP:0001369
  • AutoimmunityHP:0002960
  • Dental malocclusionHP:0000689
  • ErythemaHP:0010783
  • Erythematous plaqueHP:0025474
  • Facial asymmetryHP:0000324
  • FasciitisHP:0100537
  • Flexion contractureHP:0001371
  • Gastroesophageal refluxHP:0002020
  • HeadacheHP:0002315
  • Hemifacial atrophyHP:0011331
  • Hyperpigmentation of the skinHP:0000953
  • Hypopigmented skin patchesHP:0001053
  • Infra-orbital creaseHP:0100876
  • MigraineHP:0002076
  • MyopathyHP:0003198
  • Patchy alopeciaHP:0002232
  • Progressive loss of facial adipose tissueHP:0009019
  • Sclerosis of finger phalanxHP:0100899
  • Short dental rootHP:0006336
  • Upper limb asymmetryHP:0100560
  • UveitisHP:0000554

Very rare (<4-1%)(22)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal bone structureHP:0003330
  • Abnormal skin adnexa morphologyHP:0011138
  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the nervous systemHP:0000707
  • Abnormality of the noseHP:0000366
  • Abnormality of the respiratory systemHP:0002086
  • Abnormality on pulmonary function testingHP:0030878
  • ArrhythmiaHP:0011675
  • Deeply set eyeHP:0000490
  • EsophagitisHP:0100633
  • Focal impaired awareness seizureHP:0002384
  • Hashimoto thyroiditisHP:0000872
  • ProptosisHP:0000520
  • Raynaud phenomenonHP:0030880
  • SeizureHP:0001250
  • Skeletal muscle atrophyHP:0003202
  • Skin erosionHP:0200041
  • StrokeHP:0001297
  • VasculitisHP:0002633
  • VitiligoHP:0001045