Epidermolysis bullosa

Last reviewed:September 2019

Last updated:March 2019

Summary

Inherited mechanical fragility of the skin and epithelial tissues.

Presents as recurrent erosions, blisters, and scars.

Risk of extracutaneous complications, resulting from recurrent blistering or scarring of tissues.

Risk of infant or premature death among some epidermolysis bullosa subtypes.

High risk of death from metastatic squamous cell carcinoma during adulthood in some epidermolysis bullosa subtypes.

Definition

Epidermolysis bullosa (EB) includes >30 inherited conditions characterised by mechanical fragility of skin and epithelial-lined tissues.[1] EB is subclassified by the ultra-structural level within which blisters arise in the skin, clinical phenotype, and genotype.[2] EB results from mutations within genes encoding for any of at least 20 different structural skin proteins. People with the more severe subtypes are at risk of premature death, including death from metastatic squamous cell carcinoma, renal failure, upper airway occlusion, or sepsis.

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