Epidermolysis Bullosa (EB): Symptoms & Signs

Epidermolysis bullosa is the name given to a group of inherited conditions that affect the supporting tissue of the skin and mucosa. There are four distinctive clinical forms of the condition.

Epidermolysis bullosa often is apparent by birth or during infancy. Symptoms and signs include

  • severe skin fragility,
  • erosions, and
  • skin blisters.

Other associated signs and symptoms can include

  • nails that are thick or don't form,
  • blisters inside the mouth and throat,
  • thickened skin on the palms and soles of the feet,
  • scalp blistering,
  • scarring and hair loss (scarring alopecia), or
  • thin-appearing skin (atrophic scarring).

Some affected people may have

Cause of epidermolysis bullosa

Epidermolysis bullosa is caused by one or multiple defective genes that are required to produce structural proteins that are involved in the adherence of the epidermis (the most superficial layer of skin) to the dermis (the deeper layer of the skin).

Other epidermolysis bullosa symptoms and signs

  • Blisters Inside the Mouth and Throat
  • Dental Problems, Such as Tooth Decay From Poorly Formed Enamel
  • Difficulty Swallowing (Dysphagia)
  • Nails That Are Thick or Don't Form
  • Scalp Blistering
  • Scarring and Hair Loss (Scarring Alopecia)
  • Thickened Skin on the Palms and Soles of the Feet
  • Thin-Appearing Skin (Atrophic Scarring)
  • Tiny White Skin Bumps or Pimples (Milia)

SLIDESHOW

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Medically Reviewed on 8/25/2020
References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.