Epidermolysis Bullosa
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Epidermolysis bullosa (EB) is a group of rare hereditary genetic conditions. People with EB have very fragile skin that blisters or tears, and it can affect internal organs. Different types of EB determine the symptoms the person will face in mild and severe cases.
Diagnosis and Symptoms:
- EB can be confirmed by skin biopsies or with blood or saliva used for genetic testing.
- Symptoms may vary, but all people with EB have fragile skin and blister easily. Other problems may include trouble eating or swallowing, trouble gaining weight, anemia, problems breathing, nail loss, skin infections, scarring, difficulty walking or hand function and skin cancer.
Treatment:
As of today, there is no cure for EB. However, there are treatments available. These may include bandaging, a healthy diet and physical and occupational therapy. Surgery may be required, such as a feeding tube, dilation of the esophagus, surgical repair of the hand and foot and a breathing tube.