Epidermolysis Bullosa

Diagnosis

Your healthcare provider may recognize epidermolysis bullosa based on the appearance of the skin. To confirm the diagnosis and determine the specific type, several tests may be performed.

Common diagnostic tests include:

• Biopsy for immunofluorescence mapping: A small sample of affected skin or mucous membrane is removed and examined with a special microscope. This test helps identify which layers of the skin are affected and whether the necessary proteins for skin growth are present and functioning properly.

• Genetic testing: A small blood sample is taken for DNA analysis to confirm the presence of genetic mutations associated with epidermolysis bullosa.

• Prenatal testing: Families with a history of epidermolysis bullosa may consider prenatal testing and genetic counseling to determine the risk of passing the condition to their children.

Treatment

Treatment for epidermolysis bullosa focuses on managing symptoms, preventing complications, and improving quality of life. In most cases, care involves a combination of home management, medications, and specialized medical interventions.

Medications

• Pain relievers and anti-itch medications may be prescribed to improve comfort.

• Oral antibiotics may be given if there are signs of infection, such as fever, weakness, or widespread blistering.

Surgery
Surgical procedures may be necessary to correct complications caused by scarring and repeated blistering. Common surgical options include:

• Widening the esophagus: Surgery may be performed to open a narrowed esophagus, making it easier to swallow and eat.

• Placing a feeding tube: A gastrostomy tube may be used to deliver food directly to the stomach for improved nutrition and weight gain.

• Skin grafting: In cases where scarring limits hand function, a skin graft can restore movement and flexibility.

• Restoring movement: Surgery may be recommended to correct fused fingers, toes, or joint contractures that restrict motion.

Rehabilitation therapy
Working with a rehabilitation specialist, such as a physical or occupational therapist, can help individuals maintain mobility and adapt daily activities to prevent skin injury and promote independence.

Potential future treatments

Researchers continue to explore advanced therapies aimed at addressing the underlying causes of epidermolysis bullosa. Promising areas of research include:

• Gene therapy, including topical gels that deliver healthy genes directly to affected skin

• Bone marrow (stem cell) transplantation to promote healthy skin regeneration

• Protein replacement therapies to restore missing or defective skin proteins

• Other cell-based therapies designed to strengthen and repair damaged skin

These emerging treatments offer hope for improved management and long-term outcomes for people living with epidermolysis bullosa.