Last reviewed: November 2017
Last updated: June  2017

Summary

Definition

History and exam

Key diagnostic factors

  • positive FHx of EB
  • mechanical fragility of the skin
  • recurrent blisters and erosions
  • poorly healing wounds
  • onset of cutaneous signs at birth or early infancy
  • onset in mid or late childhood
  • resolution of blistering within the first 1-2 years of life
  • generalized or localized distribution of skin involvement
  • inverse (intertriginous), acral, or centripetal 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

Diagnostic investigations

1st investigations to order

  • immunofluorescence antigenic mapping
  • transmission electron microscopy
Full details

Emerging tests

  • DNA mutational analysis
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Professor of Medicine (Dermatology) and Pediatrics

Vanderbilt University Department of Medicine

Head

National Epidermolysis Bullosa Registry

Nashville

TN

Disclosures

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

Peer reviewers VIEW ALL

Professor and Chair

Department of Dermatology

Paracelsus Private Medical School

Salzburg

Austria

Disclosures

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

Clinical Professor of Dermatology

Columbia University College of Physicians and Surgeons

New York City

NY

Disclosures

NS declares that she has no competing interests.

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