What are the symptoms of EB?
EB is characterized by mild to severe blistering on the skin, usually beginning in infancy and continuing into adulthood. Blisters or sores on the mouth, throat and respiratory tract also characterize severe EB. Thickened skin on the palms of the hands or soles of the feet and thickening or absence of fingernails/toenails may also be present. Sometimes scarring may also lead to fusing of toes and fingers that can limit functional use of the hands and feet. Anemia is sometimes common in severely affected individuals, which may also lead to growth retardation.
How many people are affected by this disease?
Based on a large epidemiology study that was supported by the National Institutes of Health (NIH), EB is estimated to affect approximately 1 out of every 20,000 live births in the United States for the years 1986-1990.
It is estimated that there are about 15,000 to 25,000 people living with the disease in the US, although estimates vary considerably.
How did I inherit this disease?
The genes, that is the blueprints for making everything in the body and that are responsible for causing EB, are inherited by way of the X and Y chromosomes from parents. Some forms of the disease have only one set of malfunctioning genes present in one chromosome, either the X or the Y (autosomal recessive disease), while other forms require that both chromosomes contain these abnormal genes (autosomal dominant disease). These genes are normally responsible for making building blocks called proteins that “glue” the different layers of the skin together. Patients with EB make abnormal proteins and sometimes do not even make these proteins at all based on faulty genetic information.
Is there a cure or any medical treatments for EB?
There are individuals with mild EB that may require little or no treatment and who never seek medical care. Patients with moderate or severe forms of EB require family supportive care and often their quality of life is poor. Apart from protecting their skin from trauma, patients with moderate or severe forms of EB may require the services of multiple healthcare providers, including physicians and nurses, as well as nutritionists and counselors who can provide psychological support for patients and their family members.
Currently, there is no cure for EB but only supportive care that may include wound care, use of bandages as well as pain management. Blisters or blistering areas are wrapped in bandages that have to be changed frequently. Preventing infection in affected areas is also a difficult task.
Intense research is on-going currently, both at the medicinal and genetic level by industry, government and academic groups. Academic research in skin cell functional protein replacement is also active.
Where can I get more information and support?
The DELIVERS study is evaluating the safety and efficacy of CCP-020 (diacerein 1% ointment) for the treatment of EBS. For more information, visit http://deliversebs.com/ or see the study listing at ClinicalTrials.gov.
Additional information and support can be provided by organizations such as DEBRA, listed below:
Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
75 Broad Street
New York, NY 10004
Am Heumarkt 27/3
Telephone: +43 1 876 40 30-0
Fax: +43 1 876 40 30-30