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Localized junctional epidermolysis bullosa

ORPHA:251393 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(2)

  • Abnormal blistering of the skinHP:0008066
  • Fragile skinHP:0001030

Frequent (79-30%)(9)

  • Abnormality of dental colorHP:0011073
  • Acral blisteringHP:0031045
  • Atrophic, patchy alopeciaHP:0004529
  • Dental enamel pitsHP:0009722
  • Enamel hypoplasiaHP:0006297
  • Nail dystrophyHP:0008404
  • Skin detachmentHP:0032156
  • Sparse axillary hairHP:0002215
  • Sparse pubic hairHP:0002225

Occasional (29-5%)(4)

  • Aplasia cutis congenitaHP:0001057
  • Dystrophic fingernailsHP:0008391
  • Dystrophic toenailHP:0001810
  • Scarring alopecia of scalpHP:0004552

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

  • Atypical scarring of skinHP:0000987
  • Limb joint contractureHP:0003121
  • MiliaHP:0001056
  • Mitten deformityHP:0004057