The blueprint for a rare disease
Epidermolysis bullosa simplex (EBS) is the most common form of epidermolysis bullosa (EB), a family of rare conditions caused by different genetic mutations passed by parents to their children by way of the X and Y chromosomes.
EBS is believed to be caused by mutations in genes, such as the KRT5 and KRT14 genes, that are normally responsible for making tough, fibrous proteins that "glue" layers of the skin together. People living with EBS produce abnormal proteins or no proteins at all.
The National Institutes of Health (NIH) estimates EBS affects 1 in 30,000 to 50,000 people. While estimates vary considerably, it is believed that there are between 15,000 to 25,000 people living with some form of EB in the U.S and some 500,000 around the world.
Signs and symptoms of EBS
EBS is often the mildest form of EB, although generalized EBS can be quite debilitating. People living with EBS have extremely fragile skin resulting in mild to severe blistering, skin erosion and peeling of the epidermis layers in response to minor injury or friction. Blisters or sores can appear on the mouth, throat, and repository track. Some people with EBS experience thickened skin on the palms of the hands or soles of the feet, and thickening or absence of fingernails and toenails. These signs can appear in infancy and continue into adulthood.
Damaged skin can lead to widespread health problems including limited mobility, trauma to internal organs, and dehydration. Many patients experience open, blistering wounds that need frequent bandage changes and that present a risk of infection.
Currently there are no treatment options for the underlying cause of EBS. Supportive care may include bandaging and other forms of wound care as well as pain management. Depending on the severity, some people living with EBS may require little or no treatment. Others may require care by multiple providers including physicians, nurses, nutritionists, and psychological counselors.
Learn more about the DELIVERS study evaluating diacerein 1% ointment (CCP-020) for the treatment of EBS.
You can now connect with other people living with EBS by visiting a new support group on Facebook
Additional information and support can be provided by the organizations listed below:
Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)