Epidermolysis bullosa

Last reviewed: 28 Dec 2022
Last updated: 13 Mar 2019



History and exam

Key diagnostic factors

  • positive family history of EB
  • mechanical fragility of the skin
  • recurrent blisters and erosions
  • poorly healing wounds
  • onset of cutaneous signs at birth or early infancy
  • resolution of blistering within the first 1 to 2 years of life
  • generalised or localised distribution of skin involvement
  • combination of milia, scarring, and dystrophic nails
  • absence of milia, scarring, and dystrophic nails
  • exuberant granulation tissue
  • herpetiform blistering
  • pseudosyndactyly
  • enamel hypoplasia
  • reticulate hyperpigmentation
  • muscular dystrophy
  • tracheolaryngeal stenosis or stricture
  • severe upper airway disease
  • onset in mid or late childhood
  • inverse (intertriginous), acral, or centripetal distribution of skin involvement
  • severe cardiomyopathy
More key diagnostic factors

Risk factors

  • Family history of EB
More risk factors

Diagnostic investigations

1st investigations to order

  • immunofluorescence antigenic mapping
  • transmission electron microscopy
More 1st investigations to order

Emerging tests

  • DNA mutational analysis

Treatment algorithm


suspected tracheolaryngeal stenosis, stricture, or obstruction

suspected systemic infection


epidermolysis bullosa simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler's syndrome



Jo-David Fine, MD, MPH, FRCP

Professor of Dermatology and Pediatrics

Vanderbilt University School of Medicine


National Epidermolysis Bullosa Registry




J-DF is an author of a number of references cited in this topic.

Peer reviewers

Helmut Hintner, MD

Professor and Chair

Department of Dermatology

Paracelsus Private Medical School




HH is an author of a reference cited in this topic.

Nanette Silverberg, MD

Clinical Professor of Dermatology

Columbia University College of Physicians and Surgeons

New York City



NS declares that she has no competing interests.

  • Epidermolysis bullosa images
  • Differentials

    • Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
    • Congenital porphyrias
    • Cutaneous absence of skin (aplasia cutis)
    More Differentials
  • Guidelines

    • Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification
    • Providing care for patients with skin conditions: guidance and resources for commissioners
    More Guidelines
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