Epidermolysis bullosa

Last reviewed: 2 Sep 2022
Last updated: 13 Mar 2019

Summary

Definition

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

ACUTE

suspected tracheolaryngeal stenosis, stricture, or obstruction

suspected systemic infection

ONGOING

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

Contributors

Authors

Jo-David Fine, MD, MPH, FRCP

Professor of Dermatology and Pediatrics

Vanderbilt University School of Medicine

Head

National Epidermolysis Bullosa Registry

Nashville

TN

Disclosures

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

Salzburg

Austria

Disclosures

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

NY

Disclosures

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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