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Dystrophic Epidermolysis Bullosa

Journal of Perinatology volume 24, pages 41–47 (2004)Cite this article

EB is a prototype of mechanobullous disease of the stratified squamous epithelium that predominantly affects skin and mucous membrane. The unifying diagnostic feature is fragility of the skin, which manifests in the affected individuals as blistering and erosions secondary to minor trauma. There is considerable phenotypic variability, and the presence of extracutaneous manifestations adds to the complexity of this disorder.

After the first consensus meeting on the diagnosis and classification of inherited EB in 1989,1 a wealth of new information has been generated about inherited EB. With the availability of new information, in 1999, the second international consensus meeting on diagnosis and classification of inherited EB revised the classification system based on commonly recognized forms and the associated genes involved.2 Table 1 lists the currently recognized types and subtypes of inherited EB, their mode of inheritance and ultrastructural level of skin cleavage. Apart from the three major subtypes of dystrophic EB (DEB) listed in Table 1, there are additional clinical phenotypes of DEB, particularly those with distinctive distribution of disease activity are still recognized as subtypes in the revised classification system. These include dominant DEB-pretibial, DEB-transient bullous dermolysis of the newborn, dominant DEB-pruriginosa, recessive DEB-inversa, recessive DEB-centripetalis and DEB, autosomal dominant/autosomal recessive heterozygote.2

Table 1 Classification of Common Inherited Epidermolysis Bullosa (EB) Phenotypes
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Authors and Affiliations

  1. Department of Pediatrics, The Children's Hospital, Denver, CO, USA

    Bibhuti B Das MD

  2. Department of Pathology, University of Louisville, Louisville, KY, USA

    Sunati Sahoo MD

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Das, B., Sahoo, S. Dystrophic Epidermolysis Bullosa. J Perinatol 24, 41–47 (2004). https://doi.org/10.1038/sj.jp.7211019

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