Erschienen in:
Dermatology, 222 (2011) 1, Seite 10-14
Sprache:
Englisch
DOI:
10.1159/000322619
ISSN:
1421-9832;
1018-8665
Entstehung:
Anmerkungen:
Beschreibung:
Dystrophic epidermolysis bullosa (DEB) is a rare, clinically heterogeneous, blistering genodermatosis inherited as either autosomal dominant or recessive trait. All DEB forms are caused by mutations in the <i>COL7A1</i> gene, which encodes for type VII collagen, the major component of the anchoring fibrils ensuring epithelial-mesenchymal adhesion. Major determinants of clinical heterogeneity in DEB are <i>COL7A1</i> mutation types and their consequences at mRNA and protein levels; nevertheless, siblings with the same genetic alterations can manifest highly variable clinical signs. Here, we report novel compound heterozygous recessive <i>COL7A1</i> missense mutations in 2 siblings presenting different DEB clinical subtypes. Our findings document the rare occurrence of recessive inheritance for the nails only DEB variant and emphasize the role of acquired phenotype-modifying factors in DEB pruriginosa pathogenesis.