[PDF][PDF] Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.

A Harel, R Bergman, M Indelman, E Sprecher - J Pathol, 2006 - core.ac.uk
A Harel, R Bergman, M Indelman, E Sprecher
J Pathol, 2006core.ac.uk
Epidermolysis bullosa (EB) represents a very heterogeneous group of inherited diseases
characterized by recurrent skin blistering often induced by minor trauma (Uitto and Richard,
2005). EB simplex (EBS), the most common form of EB, is characterized by intraepidermal
blister formation (Fine et al., 2000). This form of EB has been shown to result from mutations
in at least five genes including KRT5, KRT14, PLEC1, COL17A1, and ITGB4 coding for
keratin 5, keratin 14, plectin, collagen 17, and integrin b4 (Bonifas et al., 1991; Coulombe et …
Epidermolysis bullosa (EB) represents a very heterogeneous group of inherited diseases characterized by recurrent skin blistering often induced by minor trauma (Uitto and Richard, 2005). EB simplex (EBS), the most common form of EB, is characterized by intraepidermal blister formation (Fine et al., 2000). This form of EB has been shown to result from mutations in at least five genes including KRT5, KRT14, PLEC1, COL17A1, and ITGB4 coding for keratin 5, keratin 14, plectin, collagen 17, and integrin b4 (Bonifas et al., 1991; Coulombe et al., 1991; Lane et al., 1992; Smith et al., 1996; Huber et al., 2002; Jonkman et al., 2002;
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