What Is EB?
A group of rare inherited disorders in which the skin and mucous membranes are extremely fragile. Minor friction or trauma can cause blistering and open wounds, and severe forms can affect multiple body systems.
Disease Focus
About Epidermolysis Bullosa
Epidermolysis Bullosa (EB) is a group of rare genetic disorders that cause the skin and mucous membranes to be extremely fragile. Even minor friction, heat, or trauma can result in painful blisters and open wounds.
EB can also affect the mouth, eyes, esophagus, and other internal organs, leading to complications that impact nutrition, mobility, and overall health. The condition varies widely in severity, from mild blistering on hands and feet to life-threatening forms that affect multiple body systems.
There is currently no cure for EB, but symptom management, wound protection, and multidisciplinary care are essential for maintaining comfort and preventing complications.
EB Facts
Key Features at a Glance
- Genetic origin
- Not contagious
- Skin fragility
- Skin layers do not hold
- Prevalence
- 1 in 20,000 births
- Across populations
- All groups equally
EB is caused by mutations in one of 18 genes responsible for producing structural proteins such as collagen VII, keratin 5 or 14, and laminin-332, which anchor skin layers together.
Without proper anchoring, the skin layers do not hold together as they should. Even minor friction, rubbing, or heat can cause recurrent blisters, tears, and open wounds.
Affects approximately 1 in every 20,000 births. About 200 children with EB are born annually in the United States.
EB impacts all genders and racial and ethnic groups equally.
Why EB Wounds Are Difficult
Because the skin is structurally fragile, patients can experience repeated injury from everyday movement, contact, or friction. Wounds may be slow to heal and vulnerable to infection.
Impact on Families
EB can affect nearly every part of daily life. Wound care, pain management, infection prevention, and mobility can all become ongoing challenges for patients and caregivers.
Types of EB
Four major types, each tied to different gene mutations
Each type of EB is defined by which layer of skin is affected and the underlying genetic mutation. Each includes multiple subtypes, and severity can vary significantly, even among individuals with the same diagnosis.
EBS
EB Simplex
The most common type of EB. Affects the upper layers of the skin's epidermis.
Caused by mutations that affect keratin proteins (typically keratin 5 or 14). Severity ranges from mild blistering on the hands and feet to more widespread forms.
JEB
Junctional EB
Affects where the outer skin (epidermis) and inner skin (dermis) meet, at the basement membrane.
Often associated with laminin-332 mutations. Severe forms can be life-threatening and may involve significant involvement of internal tissues.
DEB
Dystrophic EB
Affects the dermis, beneath the basement membrane. Blistering occurs in the deeper layers of the skin.
Caused by mutations in the COL7A1 gene affecting type VII collagen. Includes dominant and recessive forms with widely varying severity.
KEB
Kindler Syndrome
A rare type of EB that affects multiple layers of the skin, including both the epidermis and dermis.
A distinct form caused by mutations in the FERMT1 gene. Can involve photosensitivity in addition to skin fragility.
Autoimmune Variant
Epidermolysis Bullosa Acquisita (EBA)
While similar in appearance, EBA is not a genetic form of EB. It is a rare autoimmune condition, typically developing after age 40, in which the immune system mistakenly attacks type VII collagen, the protein that anchors layers of skin, causing blistering and skin fragility. There is no cure; treatment focuses on managing symptoms with immunosuppressive or anti-inflammatory medications, often under the care of a rheumatologist.
Why EB Wounds Are Difficult
Repeated skin injury can create a persistent wound burden
Because the skin is structurally fragile, everyday movement, contact, or friction can lead to repeated injury. This can contribute to recurring wounds, pain, inflammation, scarring, and infection risk.
Wound Burden Pathway
01
Fragile skin structure
02
Friction or minor trauma
03
Blistering and open wounds
04
Pain and inflammation
05
Scarring and infection risk
Living with EB
Daily care is meticulous and demanding
Most people with EB (or their caregivers) follow a strict daily routine of wound inspection, draining new blisters, cleansing skin, applying ointments, and wrapping affected areas with specialized bandages to prevent infection and further injury. For those with severe forms, this process can take hours each day.
Tasks many take for granted, like bathing, getting dressed, or eating, can cause blistering. Wounds often heal slowly or not at all, and managing pain is a constant challenge. EB's impact extends beyond the skin, sometimes affecting the eyes, mouth, and gastrointestinal tract, and may lead to long-term issues like difficulty swallowing, limited mobility, and vision problems.
01
Dressing changes
Specialized bandages and lengthy wrapping routines to protect skin and prevent further injury.
02
Wound care
Daily inspection, draining of new blisters, gentle cleansing, and application of ointments.
03
Pain management
Ongoing pain from blisters, open wounds, and dressing changes is a constant challenge.
04
Nutrition support
Blistering in the mouth and esophagus can affect swallowing and overall nutrition.
05
Infection prevention
Open wounds require vigilant care to prevent infection, scarring, and further complications.
06
Mobility challenges
Scarring and contractures can limit movement; everyday tasks like bathing or dressing can cause injury.
Diagnosis, Care & Support
A coordinated, multidisciplinary approach
EB is typically diagnosed through clinical evaluation and genetic testing. Identifying the specific type and subtype is essential for creating a personalized treatment plan. Symptom management, including wound care, pain relief, and nutritional support, is crucial to minimizing complications. A multidisciplinary team is often involved to address the wide-ranging effects of EB.
Diagnosis
EB is typically diagnosed through clinical evaluation and genetic testing. Identifying the specific type and subtype is essential for creating a personalized care plan.
Symptom management
Wound care, pain relief, and nutritional support are crucial to minimizing complications and improving quality of life.
Multidisciplinary care
A team is often involved to address the wide-ranging effects of EB, including dermatology, pain management, nutrition, surgery, and psychosocial support.
Research & emerging therapies
Ongoing research is exploring gene, cell, and topical approaches. Clinical trials and investigational programs, including CSA BioTech's CAV-121, are advancing potential new options.
External Resources
EB organizations and medical information
Visit the resources page for patient organizations such as debra of America, government medical information, and science references.
Information on this page is for general educational purposes only and is not a substitute for professional medical advice. CAV-121 is an investigational therapeutic candidate and has not been approved by the FDA. Always consult a qualified healthcare provider for diagnosis and treatment decisions.