Dominant dystrophic epidermolysis bullosa

Disease Overview

Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles.[3108] In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails,[3109] constipation, dental caries and swallowing problems.[3108] It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner.[3104] Treatment typically includes treating blisters and avoiding infection.[3108]

Synonyms

• Dominant dystrophic epidermolysis bullosa, generalized
• DDEB, generalized
• DDEB-gen
• Epidermolysis bullosa dystrophica, autosomal dominant
• Dystrophic epidermolysis bullosa, autosomal dominant
• Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)
• Epidermolysis bullosa dystrophica, Pasini type (formerly)
• Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
• DDEB, Pasini and Cockayne-Touraine types
• Generalized dominant dystrophic epidermolysis bullosa