What is EB?
Epidermolysis bullosa (EB) is a disease characterized by skin fragility causing blisters and erosions occurring either spontaneously or after physical trauma. EB is the result of genetic mutations in any of at least 18 genes encoding proteins that maintain the integrity of the skin.
There are four major types of EB: epidermolysis bullosa simplex (EBS), which occurs superficially in the epidermis; junctional epidermolysis bullosa (JEB), which occurs in the basement membrane; dystrophic epidermolysis bullosa (DEB), which occurs in the dermis; and Kindler syndrome, which occurs in various layers. EBS is dominantly inherited, JEB and Kindler syndrome are recessively inherited, and DEB can be inherited either dominantly or recessively. Epidermolysis bullosa can be further divided into six major and 31 minor subtypes based on inheritance, clinical findings, and molecular defects.
Onset of EB usually occurs at or shortly after birth, although blisters for certain subtypes may not develop until late childhood or early adulthood. The signs and symptoms of EB vary widely and may include: blisters on the skin which usually present in infancy; sores on mucous membranes such as the mouth, throat or respiratory tract; thickened skin on the palms of hands or soles of feet (keratoderma); and thickening or absence of fingernails or toenails.
In mild cases, blisters primarily affect the hands and feet while, in severe cases, widespread blistering occurs potentially leading to infections, dehydration, and other medical conditions. A variety of additional age-dependent complications may occur, but time of onset and risk of occurrence of complications are highly dependent on EB type and subtype. EB subtype and severity are dictated by the gene(s) affected and the type(s) of mutation. Although most forms of EB have mild to moderate symptoms and permit a normal life-span, some forms of EB cause high morbidity and leading to shortened life expectancy.
In the United States, the estimated incidence (number of new cases per year) of EB is 20 newborns per 1 million live births. Incidence rates of EB by subtype are approximated at 11 per million live births for EBS; 2 per million live births for JEB; 3 per million live births for dominant DEB; and 2 per million live births for recessive DEB. The prevalence of Kindler syndrome is unknown although there have been a minimum of 250 cases reported worldwide.
There is currently no cure or vastly effective treatment for EB. Thus, EB care focuses on management. Management plans center on prevention of blistering through protective skin padding, prevention of potential blister-inducing trauma through life-style modifications, and prevention of secondary infections through vigilant wound care. Keeping the skin cool, for example by using air-condition, may also prevent the disease from worsening especially in warm weather. Close monitoring of the disease and care to prevent affected tissues from becoming severely injured is integral.
Check back in November for the most up to date news on current clinical trials and current research!
The Butterfly Fund
Cincinnati Children’s Epidermolysis Bullosa (EB) Center
How you can help
Donate to the Center To Cure to help support rare disease communities such as EB.