Epidermolysis bullosa symptoms
Fact-checked by Epidermolysis bullosa (EB) includes a group of rare blistering skin disorders that make the skin extremely fragile.
Even mild friction, pressure, or heat can lead to painful skin blisters and wounds. EB symptoms can affect the skin and mucus membranes lining internal parts of the body, including the mouth, throat, eyes, and gastrointestinal tract.
Symptoms usually appear at birth or in early childhood, and may range from mild to life-threatening, depending on the specific type or subtype of the disease.
Recognizing the signs of EB is important to ensure patients are diagnosed and start receiving appropriate treatment and care early. This is especially important for some of the more severe forms of EB that can lead to long-term health complications.
Common symptoms
EB symptoms and their severity vary, but many signs are shared across disease types and subtypes. Common types of EB symptoms that may be seen across all forms of EB include:
- extreme skin fragility, with the skin tearing or blistering easily with minor friction or trauma
- blisters appearing on the hands and soles of the feet
- thickened skin that may be scarred or change color over time
- nail and skin thickening
EB symptoms in children often appear early in life as unexplained blisters, with repeated skin blistering and fragility serving as key EB diagnostic symptoms that may prompt families to seek medical care.
Skin and nail changes
Skin and nail changes in EB are common and may worsen over time. Some of these changes may include:
- itchy or painful skin
- skin that appears unusually thin
- small white bumps on the skin (milia) that form after blisters heal
- slow-healing wounds that require ongoing care
- chronic wounds that reopen easily
- thickened, misshapen, brittle, or missing fingernails or toenails
Repeated blistering can cause scarring and long-lasting changes in skin texture. Nail changes are common in some EB types and may affect daily activities, such as walking or the ability to use the hands.
Symptoms in different areas of the body
EB blister locations vary by EB type and by how much friction or pressure is applied to a specific area of the body. The distribution and severity of blisters or other lesions in different parts of the body are associated with different symptoms and complications.
- Hands and feet: Frequent blistering from walking or gripping objects may cause skin thickening or scarring over time.
- Mouth and throat: Blisters forming inside the mouth and throat can cause mouth sores, difficulty swallowing, and pain with eating or drinking.
- Vocal cords: Blistering and scarring in the vocal cords may cause a hoarse-sounding cry and obstruct the airways, which can be life-threatening.
- Eyes: Blistering and scarring of the eyelids and eyes can cause dryness, irritation, and affect vision.
- Scalp: Scarring on the scalp can lead to hair thinning or permanent hair loss.
- Joints and pressure points: Repeated blistering and extensive scarring in areas of repeated movement or pressure points can cause contractures, where joints lose range of motion and fail to straighten, limiting mobility.
Symptoms by type of EB
There are four major genetic types of EB, grouped based on where blistering occurs within the different skin layers and on their genetic cause. EB symptoms can vary widely across the different types and subtypes, depending on where blistering occurs on the skin, and on how severe and widespread it is.
- EB simplex: Blistering occurs in the upper layers of the skin and may be more restricted to specific parts of the body (e.g., hands and feet) or more widespread, depending on the subtype. Blisters usually heal without scarring, but may worsen with heat or sweating.
- Junctional EB: Characterized by widespread blistering of the skin and mucus membranes, including those lining the inside of the mouth and eyes. It may also affect the airways and gastrointestinal tract, with severe forms leading to infections that can be life-threatening, nutritional problems, and poor growth. Nail and hair changes may also occur.
- Dystrophic EB: Blistering occurs in the deeper layers of the skin and mucus membranes, often leading to scarring and chronic non-healing wounds. May also cause nail and hair changes, swallowing problems due to blistering and scarring of the esophagus (the tube carrying food from the mouth to the stomach), joint contractures, and fusion of fingers or toes in severe forms.
- Kindler syndrome: Blistering occurs in multiple layers of the skin, commonly in the extremities. Also marked by increased sensitivity to sunlight, skin thinning or discoloration, and skin thickening on the palms of the hands and soles of the feet.
Complications related to symptoms
People living with EB may face complications from ongoing blistering and skin damage, which may affect their overall prognosis and quality of life. The type of complications that can happen vary by EB type and severity, but possible EB complications include:
- increased risk of infections due to non-healing or chronic wounds
- anemia, or a lack of red blood cells, due to ongoing blood loss from wounds
- growth delays, trouble gaining weight, or nutritional problems due to eating or swallowing issues
- constipation and difficulty passing stool due to recurrent blistering and scarring in the area surrounding the anus
- movement restrictions and trouble using the hands due to extensive scarring, joint contractures, finger or toe fusion
- tooth decay and other dental issues
- increased risk of skin cancer, which may reduce life expectancy
In addition to complications related to physical aspects of the disease, people with EB also face emotional and social challenges related to visible symptoms and chronic pain.
When to seek medical help
Medical care is essential for effectively managing EB symptoms and preventing possible complications. Patients should seek medical attention if they notice:
- signs of infection, such as redness, swelling, or fever
- difficulty swallowing
- difficulty breathing
- any new symptoms
Supporting symptom management at home
Because there is no cure for EB, treatment focuses mainly on managing symptoms, preventing complications, and improving patients’ quality of life. Daily EB care at home and regular medical follow-up and monitoring are a key part of this process.
Supportive care strategies that may be used for managing EB at home include:
- gentle skin care and regular moisturizing to reduce friction
- wearing loose-fitting clothing made from soft fabrics like cotton or silk
- maintaining a cool environment to reduce blistering triggered by heat
- keeping fingernails short to prevent skin injury
- cleaning and protecting wounds with appropriate bandages or other dressings
With proper care, many people with EB can keep their fragile skin protected, reduce discomfort, and maintain their ability to engage in daily activities.
Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
