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Localized dystrophic epidermolysis bullosa, pretibial form

ORPHA:79410 · Clinical subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(3)

  • Abnormal blistering of the skinHP:0008066
  • Localized skin lesionHP:0011355
  • Pretibial blisteringHP:0012221

Frequent (79-30%)(11)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal toenail morphologyHP:0008388
  • AnonychiaHP:0001798
  • Atrophic scarsHP:0001075
  • Atypical scarring of skinHP:0000987
  • Fragile skinHP:0001030
  • KeloidsHP:0010562
  • MiliaHP:0001056
  • Nail dystrophyHP:0008404
  • Palmoplantar blisteringHP:0007446
  • PruritusHP:0000989

Occasional (29-5%)(9)

  • Abnormality of the eyeHP:0000478
  • Carious teethHP:0000670
  • Erythematous papuleHP:0030350
  • Hyperkeratotic papuleHP:0045059
  • Mitten deformityHP:0004057
  • Oral mucosal blistersHP:0200097
  • Skin erosionHP:0200041
  • Skin vesicleHP:0200037
  • Small nailHP:0001792

Excluded (0%)(12)

  • Abnormal respiratory system morphologyHP:0012252
  • Abnormal scalp morphologyHP:0001965
  • Abnormality of the urinary systemHP:0000079
  • AnemiaHP:0001903
  • Basal cell carcinomaHP:0002671
  • Cutaneous melanomaHP:0012056
  • Enamel hypoplasiaHP:0006297
  • Gastrointestinal inflammationHP:0004386
  • Genital blisteringHP:0031464
  • Growth delayHP:0001510
  • Palmoplantar keratodermaHP:0000982
  • Squamous cell carcinomaHP:0002860