Overview
Epidermolysis bullosa (EB) is a rare genetic skin condition characterized by fragile, blistering skin. The blisters may develop in response to minor injury or even from heat, rubbing, or scratching. Epidermolysis bullosa is primarily inherited and can manifest in infants or young children, with some people not showing symptoms until their teens or young adulthood. There are different types of EB, mainly defined by the layers of skin that separate and form blisters. Treatment for EB focuses on managing blisters and preventing new ones, but there is no cure for the condition. Symptoms can include fragile skin that blisters easily, thin-looking skin, nail abnormalities, blisters inside the mouth and throat, and dental issues.
Understanding the disease
Symptoms
The symptoms of epidermolysis bullosa include fragile skin that blisters easily, particularly on the palms and feet; nails that are thick or unformed; blisters inside the mouth and throat; skin that looks thin; tiny pimple-like bumps (milia); dental problems such as tooth decay; and difficulties with swallowing or breathing, as well as signs of infection like warm, painful, swollen skin, pus, odors from sores, fever, or chills.
Risk Factors
The major risk factor for developing epidermolysis bullosa is having a family history of the disorder. Inheriting the disease gene from one parent who has the disease (autosomal dominant inheritance) or both parents (autosomal recessive inheritance) can also cause the condition.
Development
The various types of epidermolysis bullosa mainly differ in the layers of skin that separate and form blisters. The three primary types are Epidermolysis Bullosa Simplex, Junctional Epidermolysis Bullosa, and Dystrophic Epidermolysis Bullosa:
- Epidermolysis Bullosa Simplex: This is the most common type, caused by heat and friction, which affects the outer layer of the skin. Blisters heal without scarring, typically appearing on the palms and feet.
- Junctional Epidermolysis Bullosa: This type may be severe, with blisters beginning in infancy. It affects the area where the epidermis and dermis meet, the basement membrane. Blisters may occur inside the body, such as the lining of the mouth or stomach.
- Dystrophic Epidermolysis Bullosa: This type is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn't function, the layers of the skin won't join properly. Diseased mucous membranes can cause constipation and make it hard to eat. Epidermolysis Bullosa Acquisita is distinct from these conditions, as it isn't inherited and is rare in children. It's not related to the other types mentioned above. It's important to note that epidermolysis bullosa can be inherited in an autosomal dominant or autosomal recessive manner. This means you can inherit the disease gene from one parent who has the disease or from both parents.
Assessment and Diagnosis
Triage
You should see a doctor if epidermolysis bullosa is suspected, especially if the child experiences any of the following:
- Problems swallowing
- Problems breathing
- Signs of infection, such as warm, painful, or swollen skin, pus, an odor from a sore, and fever or chills Seeing a doctor early can help provide the best treatment and management for the condition.
Diagnosis
To diagnose epidermolysis bullosa, your health care provider may examine the skin's appearance and may recommend tests to confirm the diagnosis. The tests may include a biopsy for immunofluorescence mapping, genetic testing, and prenatal testing. If you or your child have signs or symptoms of epidermolysis bullosa, it's important to consult a healthcare professional for proper diagnosis and management.
Management and Treatment
Complications
Potential complications of epidermolysis bullosa include infection, bloodstream infection (sepsis), fusion of fingers and changes in the joints, problems with nutrition, constipation, dental problems, skin cancer, and in severe cases, death. It's important to spot signs of complications early to prevent further health issues.
Treatment
Treatment for epidermolysis bullosa primarily focuses on managing symptoms, preventing skin injuries, and caring for blisters. There is no cure for the condition, but some treatments can provide relief and improve quality of life. Some of the recommended treatments include:
- Wound care: For blisters and wounds, clean the affected area with mild soap and water, and apply a sterile dressing or bandage. Keep the wound clean and dry to prevent infection.
- Moisturizers: Regularly apply gentle, fragrance-free moisturizers to help protect the skin and prevent dryness.
- Protective clothing: Dress your child in soft, loose-fitting clothing to minimize friction and reduce the risk of skin injury. Removing labels and sewing foam pads into clothing can provide additional protection.
- Avoiding irritants: Keep the child away from harsh chemicals, rough fabrics, and other irritants that can cause blisters or skin damage.
- Activity modification: Encourage low-impact activities to reduce the risk of skin injury, such as swimming or water-based exercises.
- Medical interventions: In some cases, medical professionals may recommend the use of medications or other treatments to manage pain, prevent infection, or address specific symptoms, such as dental problems. It's essential to consult a healthcare professional experienced in managing epidermolysis bullosa for personalized advice and treatment recommendations.
Preparing for medical consultation
To prepare for an appointment for epidermolysis bullosa, you can follow these steps:
- List your or your child's signs and symptoms: Make a list of the skin-related symptoms, such as blisters, itching, or pain, and how long they have been present. This information will help your health care provider understand the severity of the condition and determine the appropriate course of action.
- Gather medical records: Collect any medical records or test results related to the skin condition, including any previous biopsies, genetic tests, or hospitalizations due to complications.
- Prepare a list of questions: Create a list of questions to ask your health care provider during the appointment, such as the causes of the condition, available treatments, how to manage pain or discomfort, and any potential complications.
- Consider support resources: Ask your health care provider about epidermolysis bullosa support groups, counselors, or social workers who can provide guidance and support for coping with the condition. You may also inquire about stress-reduction resources or consult with a psychologist to learn stress-reduction techniques.
- Be prepared for potential tests: If your health care provider suspects epidermolysis bullosa, they may recommend tests such as immunofluorescence mapping, genetic testing, or prenatal testing. Be prepared to discuss these options and their potential outcomes. Remember to communicate openly with your health care provider about your concerns, questions, and any challenges you may be facing in managing the condition. This information will help them provide the best care and support for you or your child.