Epidermolysis bullosa

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.

Epidermolysis bullosa (EB) includes >30 inherited conditions characterised by mechanical fragility of skin and epithelial-lined tissues. [1] Fine J-D, Burge SM. Genetic blistering diseases. In: Burns T, Breathnach S, Cox N, et al, eds. Rook's Textbook of Dermatology. 8th ed. Oxford: Wiley-Blackwell; 2010: 39.1-39.37. EB is subclassified by the ultra-structural level within which blisters arise in the skin, clinical phenotype, and genotype. [2] Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103-1126. http://www.jaad.org/article/S0190-9622(14)01040-8/fulltext http://www.ncbi.nlm.nih.gov/pubmed/24690439?tool=bestpractice.com EB results from mutations within genes encoding for any of at least 18 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.