Epidermolysis bullosa, dystrophica

Definition:

Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation occurs in the dermis, are inherited in either autosomal dominant or autosomal recessive pattern. In the most severe subtype of recessive dystrophic epidermolysis bullosa, there is esophageal stenosis and pseudosyndactyly.

References:

[1]. B Drera, et al. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet. 2006 Oct;70(4):339-47. [Content Brief]

[2]. C M Betts, et al. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. Br J Dermatol. 1999 Nov;141(5):833-9. [Content Brief]

[3]. Jo-David Fine, et al. Inherited epidermolysis bullosa: recent basic and clinical advances. Curr Opin Pediatr. 2010 Aug;22(4):453-8. [Content Brief]

[4]. Roslyn Varki, et al. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007 Mar;44(3):181-92. [Content Brief]

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