Rare Disease Database

Synonyms

• EBS, generalized
• Generalized EBS
• Epidermolysis bullosa simplex, Koebner type
• EBS-K
• Epidermolysis bullosa simplex, generalized non-Dowling-Meara

Overview

Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body’s surface.[2378][15276][15278] Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age.[15278] There are two major subtypes of this condition and 17 minor subtypes. The four most common types of epidermolysis bullosa simplex are EBS localized, EBS generalized intermediate, EBS with mottled pigmentation and EBS generalized severe. These four common types are caused by mutations in the EXPH5, KRT5, KRT14, and TGM5 genes.[15278] This condition is usually inherited in an autosomal dominant or autosomal recessive fashion.[15276]. These conditions are diagnosed based on the symptoms and by genetic testing.  Treatment is focused on managing the symptoms. The symptoms of EBS tend to get better with age. The long-term outlook for people with EBS depends on how well the skin symptoms can be managed.[15277] 

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