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Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype
Author(s) -
Brick Katherine,
Hand Jennifer L.,
Frankel Amy S.,
Siegel Dawn H.,
Thomas Kelly B.,
elAzhary Rokea,
Krol Alfons
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2012.01786.x
Subject(s) - epidermolysis bullosa , medicine , dermatology , phenotype , epidermolysis bullosa dystrophica , autosomal recessive inheritance , pathology , genetics , biology , gene
A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB). The pruriginosa variant (DEB‐Pr) is unique because its initial presentation may be delayed until adolescence or adulthood, and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB. We describe three families with multiple affected members in which DEB‐Pr shows an autosomal‐dominant inheritance pattern. All affected individuals were examined, and three previously unreported COL7A1 mutations were identified.