Epidermolysis bullosa

Definition:

Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome.

References:

[1]. Jo-David Fine, et al. Inherited epidermolysis bullosa: past, present, and future. Ann N Y Acad Sci. 2010 Apr;1194:213-22. [Content Brief]

[2]. M C Bolling, et al. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. Br J Dermatol. 2010 Jun;162(6):1388-94. [Content Brief]

[3]. Marilina Tampoia, et al. Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa. Orphanet J Rare Dis. 2013 Sep 4;8:132. [Content Brief]

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