Living with EB
Fragile as a wing of a butterfly
In many languages, children living with Epidermolysis Bullosa are often called "butterfly children", comparing the fragility of skin with that of butterfly wings.
While skin fragility is a comon feature of all EB types, the characteristic symptoms and severity, and hence prognosis and treatment, vary greatly from one type to another.
Chronic wounds, pain & itch
EB skin is never able to ever heal properly with normal strength: chronic open wounds and extensive scarring develop with attendant pain. Each time EB skin is damaged, the damage is largely irreversible, although good wound care can help to reduce the extent and severity of damage. Nevertheless, disfigurement and disability accrue over a lifetime. Some severe forms of EB are fatal in infancy; others in older children and young adults.
The chronic wounds of EB can result in decreased mobility owing the pain and the extensive scar tissue that forms. Scarring in turn results in constriction of the mouth or throat, or ‘mitten’ deformities of the hands and feet: benefits of surgery to release fingers, for example, are of limited duration as scar tissue starts to form again immediately.
Internal mucosae & skin cancer
For some types of EB, the internal mucosae are also affected: nutrition can be compromised, resulting in osteoporosis, and general failure to thrive: quite young children can depend on gastrostomies or require highly specialized diets.
A type of skin cancer, squamous cell carcinoma (SCC), is a major cause of death for recessive dystrophic EB teenagers and young adults: surgery, radio- or chemotherapy are not effective. It is particularly aggressive and invasive in EB patients and the need is to prevent development or slow the spread.