Epidermolysis bullosa, hemidesmosomal

Definition:

Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex.

References:

[1]. Daisuke Sawamura, et al. Overview of epidermolysis bullosa. J Dermatol. 2010 Mar;37(3):214-9. [Content Brief]

[2]. Dörte Koss-Harnes, et al. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol. 2002 Jan;118(1):87-93. [Content Brief]

[3]. Hiroyuki Nakamura, et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn. 2005 Feb;7(1):28-35. [Content Brief]

[4]. Jouni Uitto, et al. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol. 2005 Jan-Feb;23(1):33-40. [Content Brief]

[5]. Maria C Bolling, et al. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol. 2010 Apr;130(4):1178-81. [Content Brief]

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