%0 Journal Article
%T Inherited epidermolysis bullosa
%A Jo-David Fine
%J Orphanet Journal of Rare Diseases
%D 2010
%I BioMed Central
%R 10.1186/1750-1172-5-12
%X Disease name: epidermolysis bullosaSynonyms: see Table 1 and [1]Inherited epidermolysis bullosa (EB) encompasses over 30 phenotypically or genotypically distinct entities which share as a common feature mechanical fragility of epithelial lined or surfaced tissues, most notably the skin [2]. A characteristic feature of all types of EB is the presence of recurrent blistering or erosions, the result of even minor traction to these tissues.In general, patients with EB are classified and subclassified based on the ultrastructural level within which blisters develop within the skin (Table 2), mode of inheritance, and combinations of clinical, electron microscopic (Table 3), immunohistochemical (Table 4), and genotypic features. Each of the major EB subtypes is discussed in great detail in the 2008 consensus report on diagnosis and classification [3], which was based on the recommendations of an international panel of EB experts, superceding two previously recommended classification schemes [4,5].There are four major types of inherited EB: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome [6]. These differ not only phenotypically and genotypically but more importantly by the site of ultrastructural disruption or cleavage. Intraepidermal blistering is the hallmark feature of EB simplex. EB simplex patients are then further subclassified, based on whether blisters arise within the basal (i.e., lowermost) or suprabasal (upper) layers of the epidermis [3]. In contrast, JEB and DEB patients develop their blisters within the lamina lucida and sub-lamina densa of the skin basement membrane zone ("dermoepidermal junction"), respectively. In Kindler syndrome, multiple cleavage planes may be seen within the same sample of skin [7]. Table 5 lists each of the major EB types and subtypes, as recognized in the latest consensus report. As reported in that publication, the major additions to previous classification schemes have been (1) the subdivision of EB
%U http://www.ojrd.com/content/5/1/12