Dominant Dystrophic Epidermolysis Bullosa: Seven Familial Cases

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    TLDR The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
    The document reports on seven familial cases of dominant dystrophic epidermolysis bullosa (EB), a group of inherited skin disorders characterized by blisters, erosions, and chronic wounds in response to mechanical trauma. The study involved dermatologic examinations and antigen mapping to confirm the clinically suspected subtype of EB. The seven cases ranged in age from 20 to 60 years old, with symptoms present since birth or early childhood, including blisters, dystrophic nails, and milia. Histopathologic exams revealed subepidermal cleavage, and antigen mapping supported the diagnosis of dystrophic EB. This study provided detailed clinical descriptions of the dominant dystrophic EB in a single family, contributing to the understanding of the disease's presentation and inheritance. No commercial support was identified for this study.
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