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
Diagnostic investigations
1st investigations to order
- immunofluorescence antigenic mapping
- transmission electron microscopy
Treatment algorithm
Contributors
Authors VIEW ALL
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 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 topic.
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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