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Autosomal dominant generalized epidermolysis bullosa simplex, severe form

ORPHA:79396 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(6)

  • Abnormal blistering of the skinHP:0008066
  • ErythemaHP:0010783
  • Fragile skinHP:0001030
  • Generalized abnormality of skinHP:0011354
  • Nail dystrophyHP:0008404
  • Palmoplantar keratodermaHP:0000982

Frequent (79-30%)(15)

  • AlopeciaHP:0001596
  • AnemiaHP:0001903
  • Aplasia cutis congenitaHP:0001057
  • Aplasia cutis congenita on trunk or limbsHP:0007589
  • Atrophic scarsHP:0001075
  • Enamel hypoplasiaHP:0006297
  • Feeding difficultiesHP:0011968
  • Gastrostomy tube feeding in infancyHP:0011471
  • Generalized reticulate brown pigmentationHP:0007599
  • Growth delayHP:0001510
  • Hyperpigmentation of the skinHP:0000953
  • MiliaHP:0001056
  • Oral mucosal blistersHP:0200097
  • Recurrent skin infectionsHP:0001581
  • ScarringHP:0100699

Occasional (29-5%)(22)

  • Abnormal epiglottis morphologyHP:0005483
  • Abnormality of the larynxHP:0001600
  • BronchomalaciaHP:0002780
  • Congenital nystagmusHP:0006934
  • Corneal opacityHP:0007957
  • CraniosynostosisHP:0001363
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Depigmentation/hyperpigmentation of skinHP:0007483
  • Distal lower limb amyotrophyHP:0008944
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • Hoarse voiceHP:0001609
  • HypermetropiaHP:0000540
  • HypoalbuminemiaHP:0003073
  • Hypopigmentation of the skinHP:0001010
  • LaryngomalaciaHP:0001601
  • OnychogryphosisHP:0001805
  • PhotophobiaHP:0000613
  • Recurrent infectionsHP:0002719
  • SepsisHP:0100806
  • Smooth tongueHP:0010298
  • VentriculomegalyHP:0002119

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

  • Squamous cell carcinoma of the skinHP:0006739