DIAGNOSIS
The look of the damaged skin may lead a clinician to suspect epidermolysis bullosa. Moreover, the doctor will most likely order laboratory testing for your child to make a diagnosis.
- Genetic testing. Because most types of epidermolysis bullosa are hereditary, genetic testing is occasionally performed to confirm the diagnosis. A tiny amount of blood is drawn and sent to a laboratory for testing.
- Immunofluorescent mapping using a skin biopsy. A small sample of affected skin is collected and evaluated with reflected light under a microscope.
- Prenatal testing. Families with a history of epidermolysis bullosa may benefit from prenatal testing and genetic counseling.
TREATMENT
Medicines, surgery, and rehabilitation may be used if lifestyle changes and home care aren’t enough to control the signs and symptoms of epidermolysis bullosa. Despite treatment, the illness often progresses, resulting in serious complications and death.
Nevertheless, the following treatments may help alleviate the symptoms in order to provide comfort:
Medications
Pain and itchiness may be managed through medications. Moreover, these may address health problems, including bloodstream infection (sepsis). If the wounds show signs of infection, the doctor may prescribe oral antibiotics (fever, weakness, swollen lymph glands).
Surgery
Surgery may also be considered in:
- Restoring mobility
- Placing feeding tube
- Widening esophagus
- Grafting skin
