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Pediatr Dermatol. 2009 Jan-Feb;26(1):115-7. doi: 10.1111/j.1525-1470.2008.00846.x.

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

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  • 1Department of Dermatology, Division of General Dermatology, Medical University of Vienna, Vienna, Austria.


Dystrophic epidermolysis bullosa (DEB) represents a group of inherited skin disorders characterized by sublamina densa blister formation. We resent the case of a 16-year old girl with DEB, who had a 10-year-history of recurrent pruritic skin lesions. Despite misleading biopsy results, the correct diagnosis was suspected by examination of other family members. Finally, mutational analysis revealed a novel glycine substitution mutation in the COL7A1 gene in three affected family members.

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