Epidermolysis Bullosa
Epidermolysis bullosa is a rare inherited condition that causes the skin to become extremely fragile, blistering and tearing from even the slightest touch or friction.
Table of contents
- What is Epidermolysis Bullosa?
- Types of Epidermolysis Bullosa
- Signs and Symptoms
- Causes and Inheritance
- How is it Diagnosed?
- Treatment and Management
- Living with Epidermolysis Bullosa
- What to Expect
What is Epidermolysis Bullosa?
Epidermolysis bullosa (EB) is a group of rare genetic disorders that affect the skin’s strength and structure. People with this condition have skin that is incredibly delicate, similar to a butterfly’s wings, which is why children with EB are sometimes called “butterfly children.”[1] The slightest pressure, rubbing, or even heat can cause painful blisters and open wounds to form on the skin.[2]
This condition is present from birth or appears in early childhood in most cases, though some milder forms may not become noticeable until later in life.[3] The blisters occur because the layers of skin do not hold together properly. Without the proteins that normally anchor the skin layers, even everyday activities like walking, eating, or getting dressed can damage the skin.[5]
EB affects approximately 1 in every 50,000 births in the United States.[2] The condition impacts people of all races, ethnic backgrounds, and genders equally.[5] While there is currently no cure for EB, treatments focus on preventing blisters, caring for wounds, managing pain, and addressing complications that may arise.[1]
Types of Epidermolysis Bullosa
There are four main types of EB, classified according to which layer of the skin is affected and where the blistering occurs. Each type can range from mild to severe, and even people with the same type may experience very different symptoms.[5]
EB simplex (EBS) is the most common form of the condition. In EBS, blisters form in the top layer of skin called the epidermis (the outermost layer of skin).[2] The severity can vary widely. Some people have only mild blistering on their hands and feet, while others experience more widespread problems. The good news is that blisters from EBS typically heal without leaving scars.[2]
Junctional EB (JEB) causes blisters to form in the area where the outer skin layer meets the inner layer, known as the basement membrane (the connecting zone between skin layers).[5] This type is rare and can range from moderate to severe. People with JEB often develop blisters in the mouth and airways, which can make eating and breathing difficult.[2] Severe forms can be life-threatening, especially in infancy.[8]
Dystrophic EB (DEB) affects the deeper layer of skin called the dermis (the inner layer of skin beneath the epidermis).[5] This type causes scarring after blisters heal. In mild cases, blistering mainly occurs on the hands, feet, knees, and elbows. Severe cases involve widespread blistering, including inside the mouth and digestive tract, which can lead to problems with nutrition and growth.[8] People with severe DEB have a higher risk of developing skin cancer as they get older.[8]
Kindler syndrome is a very rare form where blisters can form in multiple layers of the skin.[2] People with Kindler syndrome also have increased sensitivity to sunlight.[8]
Signs and Symptoms
The most recognizable feature of EB is skin that blisters very easily. However, the condition affects more than just the skin’s surface. The symptoms usually appear during infancy or when a toddler begins to walk, though they can sometimes emerge later in childhood or even adulthood.[1]
Common symptoms include blisters on the skin, particularly on the hands, feet, elbows, and knees. The skin may also develop thick, tough patches called calluses (thickened areas of skin that form from repeated friction) on the palms and soles.[2] Small white bumps known as milia (tiny skin cysts) may appear on the skin.[1]
The fingernails and toenails often become thick or fail to form properly. In severe cases, repeated blistering and scarring can cause fingers or toes to fuse together, limiting movement.[2]
Blisters can also develop inside the body, particularly in the mouth and throat. This can make eating difficult and painful, a problem called dysphagia (difficulty swallowing).[2] Children with EB may not grow at the expected rate because of nutritional challenges.[2]
Other symptoms may include dental problems, such as tooth decay, especially in people with certain types of EB.[1] Some people develop anemia (a condition where the blood has too few red blood cells), which can cause tiredness and weakness.[2] Hair loss may occur in areas where the scalp repeatedly blisters and scars.[1]
In the most severe cases, blisters in the eyes can affect vision, and blistering in the airways can make breathing difficult. Life-threatening complications may include severe infections, dehydration, and malnutrition, particularly in infants.[2]
Causes and Inheritance
EB is caused by changes or mistakes in genes that provide instructions for making proteins essential for healthy skin. These proteins, such as collagen VII, keratin, and laminin, act like glue to hold the layers of skin together.[5] When these proteins are missing or do not work properly, the skin layers separate easily, causing blisters.[6]
At least 18 different genes have been linked to EB, and mutations in these genes can lead to more than 30 different subtypes of the condition.[4][5] The specific gene affected determines which type of EB a person has and how severe their symptoms will be.
EB is an inherited condition, meaning it passes from parents to children through genes. Some types of EB follow an autosomal dominant pattern (a condition that can occur if just one parent passes on the changed gene). In these cases, if one parent has EB, each child has a 50% chance of inheriting the condition.[4]
Other types follow an autosomal recessive pattern (a condition that occurs only when both parents pass on changed genes). Both parents must carry the gene change, even though they may not have symptoms themselves. When both parents are carriers, each child has a 25% chance of having EB, a 50% chance of being a carrier, and a 25% chance of neither having the condition nor being a carrier.[3]
In some cases, the gene change occurs spontaneously, meaning neither parent carries the gene mutation. This happens by chance during the formation of reproductive cells or early in the baby’s development.[4]
How is it Diagnosed?
Doctors often suspect EB when they see characteristic blistering, especially in newborns or young children. However, several tests are needed to confirm the diagnosis, determine which type of EB is present, and understand how severe it is.[9]
A skin biopsy (a procedure where a small sample of skin is removed for testing) is one of the main diagnostic tools. A small piece of affected skin is taken and examined under a special microscope using a technique called immunofluorescence mapping (a test that uses fluorescent dyes to identify specific proteins in the skin). This test shows which layer of skin is separating and whether the necessary proteins for healthy skin are present.[9]
Genetic testing is the preferred method for diagnosing EB. A blood sample or saliva is analyzed in a laboratory to identify specific gene mutations.[8] Genetic testing not only confirms the diagnosis but also helps predict the likely course of the disease and provides information for family planning.
For families with a known history of EB, prenatal testing (testing performed during pregnancy) may be an option. Tests such as amniocentesis (a procedure where fluid is removed from the womb) or chorionic villus sampling (a test where a small sample of the placenta is taken) can be performed after the 11th week of pregnancy to check if the unborn baby has EB.[3] Families considering this testing are usually offered genetic counseling to understand their options and the implications of test results.
Treatment and Management
While there is no cure for EB, treatment focuses on preventing blisters, caring for wounds, managing pain, and preventing complications. Care often requires a team of medical specialists, including skin doctors, nutritionists, physical therapists, dentists, and social workers.[11]
Preventing Blisters
The first line of defense is avoiding anything that can damage the skin. This means choosing soft, loose-fitting clothing made from natural fabrics like cotton. Shoes should fit well and have smooth inner linings without bulky seams.[11] Parents learn to handle babies and children gently, avoiding pulling or rubbing the skin. Keeping cool helps, as sweating can irritate the skin.[11]
Special care is needed during daily activities. Tape should never be applied directly to the skin of someone with EB.[16] Even routine tasks like bathing require gentle techniques, using lukewarm water and mild, fragrance-free soap.[11]
Wound Care
When blisters do form, they need proper care to prevent infection and promote healing. Most new blisters should be carefully drained using a sterile needle to prevent them from growing larger. The roof of the blister is usually left in place to protect the raw skin underneath.[11]
Wounds are covered with special non-stick dressings that are easy to remove without causing further damage. These dressings are changed daily, which can be painful but is necessary to keep wounds clean.[11] Petroleum jelly, antibiotic ointments, and moisturizing creams may be applied to protect the skin and prevent infection.[16]
A topical gel containing birch bark extract (a natural substance from birch trees) has been approved for treating wounds in people aged 6 months and older with junctional EB and dystrophic EB. This treatment helps wounds heal more quickly.[11]
Approved Gene Therapy
In recent years, innovative treatments have been developed. The first topical gene therapy for EB, called beremagene geperpavec, was approved for treating wounds in patients with dystrophic EB. This treatment works by delivering a working copy of the gene that is changed in DEB, allowing cells to produce the missing protein.[16]
Another approved therapy, prademagene zamikeracel, is a cell sheet-based gene therapy for treating wounds in patients with recessive dystrophic EB.[16] These treatments represent major advances in managing this challenging condition.
Managing Complications
Medications may be needed to control pain and itching. If signs of widespread infection appear, such as fever or increasing redness around wounds, oral antibiotics are prescribed.[9]
When blistering and scarring in the esophagus make swallowing difficult, surgery may be needed to widen the tube. Some people require a feeding tube placed directly into the stomach to ensure adequate nutrition.[9] A soft diet of soups, smoothies, and other easy-to-swallow foods may be necessary for those with mouth and throat blisters.[21]
Physical therapy is important to maintain movement and prevent joints from becoming stiff due to scarring. In severe cases, surgery may be needed to separate fused fingers or toes.[9]
Regular dental care is essential, as people with certain types of EB are prone to tooth decay. Eye problems may require lubricating drops and antibiotic ointments.[16]
Living with Epidermolysis Bullosa
Living with EB affects every aspect of daily life for both the person with the condition and their family. Care can be physically exhausting and time-consuming, with daily wound care sometimes taking several hours.[21]
Daily Challenges
Parents must learn to balance protecting their child’s skin with allowing them to live as normal a life as possible. This includes carefully monitoring activities to avoid rough play, yet encouraging participation in gentle exercises like swimming that benefit overall health.[11] Simple tasks that most people take for granted—getting dressed, eating, bathing—require careful planning and adaptation.[5]
School-age children with EB may need special accommodations, such as a caregiver in the playground and exemption from contact sports. However, it’s important that children still socialize and engage with classmates.[11] Educating teachers and other children about EB helps promote understanding and acceptance.[21]
Financial and Emotional Impact
The financial burden of EB can be significant. Special bandages and dressings are expensive, and families may need help coordinating with insurance companies to cover costs.[21] Beyond medical supplies, families may need to adapt their living spaces and purchase special items to make daily life easier.
The emotional challenges are equally demanding. Both children and families can feel isolated, as the condition requires so much time and attention and can be a barrier to outside relationships.[21] Children may struggle with feeling different from their peers and worry about standing out because of their special needs.
Support Networks
A strong support network is vital for families affected by EB. This includes support from family, friends, healthcare providers, and other families who understand what they’re going through.[21] Many countries have national EB support organizations that provide advice, connect families with resources, and offer emotional support. Online communities also allow families to share experiences and learn from others managing the condition.[3]
butterfly children, EB
What to Expect
The outlook for people with EB varies greatly depending on the type and severity of the condition. Mild forms of EB may improve with age and are not life-threatening.[1] Many people with mild EB can lead relatively normal lives with appropriate care and precautions.
However, severe forms of EB can significantly impact quality of life and life expectancy. Some infants with the most severe forms may not survive due to complications such as widespread infection, breathing problems, dehydration, or malnutrition.[2] For those with severe cases who survive infancy, life expectancy can range from childhood to around 30 years of age, though some people live longer with excellent care.[2]
One of the most serious long-term complications is the development of squamous cell carcinoma (a type of skin cancer), particularly in people with severe dystrophic EB. This cancer tends to be aggressive and is a major cause of death in this group.[4] Regular skin checks are important for early detection.
Research into new treatments continues, with scientists exploring various approaches including gene therapy, protein replacement, and cell-based therapies. Clinical trials are testing new treatments that may one day change the outlook for people with EB.[15] While a complete cure remains elusive, advances in medical care and the approval of new treatments offer hope for better management and improved quality of life for people living with this challenging condition.
