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Self-improving dystrophic epidermolysis bullosa

ORPHA:79411 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(1)

  • Generalized abnormality of skinHP:0011354

Frequent (79-30%)(8)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal subungual morphologyHP:0009723
  • AnonychiaHP:0001798
  • Atrophic scarsHP:0001075
  • Fragile skinHP:0001030
  • MiliaHP:0001056
  • Nail dystrophyHP:0008404
  • Oral mucosal blistersHP:0200097

Occasional (29-5%)(3)

  • Aplasia cutis congenitaHP:0001057
  • Carious teethHP:0000670
  • Skin erosionHP:0200041

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

  • Abnormal skin pigmentationHP:0001000

Excluded (0%)(14)

  • Abnormal respiratory system morphologyHP:0012252
  • Abnormal scalp morphologyHP:0001965
  • Abnormality of the eyeHP:0000478
  • 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
  • Mitten deformityHP:0004057
  • Palmoplantar keratodermaHP:0000982
  • Squamous cell carcinomaHP:0002860