Summary about Disease
Epidermolysis Bullosa (EB) is a group of rare genetic skin disorders that cause the skin to be very fragile and blister easily. Blisters and skin erosions can occur from minor trauma or friction, such as rubbing, scratching, or adhesive tape. The severity of EB varies widely, from mild blistering that heals without scarring to severe blistering that can affect internal organs and lead to disability or death.
Symptoms
Symptoms of Epidermolysis Bullosa can vary depending on the type and severity of the condition, but common signs include:
Fragile skin that blisters easily, even from minor friction or trauma
Blisters may be filled with fluid
Skin erosions (open sores)
Thickened or deformed fingernails and toenails
Scarring
Milia (tiny white bumps)
Dysphagia (difficulty swallowing)
Dental problems (e.g., enamel defects, tooth decay)
In severe cases, blistering inside the mouth, throat, esophagus, stomach, intestines, airways, and urinary tract.
Fusion of fingers or toes
Causes
Epidermolysis Bullosa is caused by genetic mutations in genes responsible for producing proteins that hold the skin layers together. These mutations disrupt the normal structure and function of the skin, making it fragile and prone to blistering. EB is typically inherited, meaning it is passed down from parents to their children. Some rare cases can be caused by spontaneous mutations.
Medicine Used
There is currently no cure for Epidermolysis Bullosa, so treatment focuses on managing symptoms and preventing complications. Medications used in EB management may include:
Pain relievers: Over-the-counter or prescription pain medications to manage pain associated with blisters and erosions.
Antibiotics: To treat or prevent infections in open wounds.
Topical steroids: To reduce inflammation and itching.
Wound care products: Special dressings and ointments to promote healing and prevent infection.
Investigational Therapies: Gene therapy, protein therapy, and cell therapy are under investigation.
Potential Treatments: Growth Factors
Is Communicable
Epidermolysis Bullosa is NOT communicable. It is a genetic disorder and cannot be spread from person to person through contact.
Precautions
People with Epidermolysis Bullosa, and those caring for them, should take the following precautions:
Handle the skin very gently.
Avoid friction and pressure on the skin.
Wear loose-fitting, soft clothing.
Pad areas prone to blistering.
Use special dressings to protect wounds.
Maintain good hygiene to prevent infection.
Keep skin moisturized.
Ensure adequate nutrition, especially protein and calories, to promote healing.
Protect skin from sun exposure.
Avoid hot temperatures
How long does an outbreak last?
EB is a chronic condition, meaning there isn't an "outbreak" with a defined start and end. Blisters and erosions can form at any time due to minor trauma. Healing time for individual blisters varies depending on the severity and type of EB, ranging from a few days to several weeks. Some blisters may heal completely, while others may leave scars.
How is it diagnosed?
Diagnosis of Epidermolysis Bullosa typically involves:
Physical Examination: Assessing the skin for characteristic blisters and other symptoms.
Skin Biopsy: Taking a small sample of skin and examining it under a microscope to determine the level of skin separation. Special staining techniques and electron microscopy can help identify the specific type of EB.
Genetic Testing: Analyzing the patient's DNA to identify the specific gene mutation causing the condition. This can help confirm the diagnosis and determine the type of EB.
Timeline of Symptoms
The timeline of symptoms varies greatly depending on the type and severity of EB:
At Birth: Some types of EB are evident at birth with widespread blistering.
Early Childhood: Other types may manifest in early childhood with blistering occurring after minor trauma.
Progression: Symptoms can remain relatively stable, worsen over time, or, in some rare instances, improve slightly with age.
Complications: Long-term complications such as scarring, contractures, and skin cancer may develop over years.
Important Considerations
EB requires lifelong management and care.
Multidisciplinary care is essential, involving dermatologists, pediatricians, surgeons, nurses, nutritionists, therapists, and social workers.
Psychological support is crucial for individuals with EB and their families.
Research into new treatments and potential cures is ongoing.
Genetic counseling is recommended for families with a history of EB.
Early diagnosis and intervention are important to minimize complications and improve quality of life.