Epidermolysis bullosa is a rare skin condition that’s usually inherited. It makes the skin incredibly thin and brittle.
People born with this condition are often called “butterfly children” because their skin is as delicate as a butterfly’s wings. Living with epidermolysis bullosa can be difficult, and it begins at birth for most.
There’s no cure for this condition, but there are a lot of treatment options. How successful treatment is depends a lot on the severity of the condition, and how many areas of the body are affected.
Fragile skin that blisters and tears is common in all types of epidermolysis bullosa. Pain and itching commonly come with the blisters and tears.
There are some subgroups of the condition and variations from person to person that can cause additional symptoms, too. These include:
- thick skin on the palms of your hands or soles of your feet
- rough or thick fingernails or toenails
- changes in skin color or tone
- scarring and tightening of the skin
- blisters inside your mouth
- scarring or tightening of other tissues inside your body
There are many types of epidermolysis bullosa. They are classified by what caused it and what parts of your body are affected.
Most forms of this condition are caused by a genetic mutation inherited from one or both parents that affects how proteins in your skin are made.
Forms of epidermolysis bullosa that have a genetic cause are divided into four subgroups. These are:
- epidermolysis bullosa simplex
- junctional epidermolysis bullosa
- dystrophicv epidermolysis bullosa
- Kindler syndrome
There’s another category of epidermolysis bullosa that isn’t caused by a genetic mutation. Instead, epidermolysis bullosa acquisita develops as an autoimmune disorder.
Epidermolysis bullosa simplex
This is the most common form of epidermolysis, but it’s still very rare, affecting between 1 in 30,000 to 1 in 50,000 people.
It usually begins at birth or in early childhood, but can develop in the adult years, too. Blistering may improve with age in some people with this subgroup of the condition.
In mild cases, blistering is usually limited to the hands and feet. With more severe forms, more parts of the body can be affected. Discolored or mottled skin is also common to this form of epidermolysis bullosa.
Junctional epidermolysis bullosa
This is one of the more severe forms of the condition. It affects about 3 per million people and can begin at birth or in early childhood.
Junctional epidermolysis bullosa causes blistering over large areas of the body and can affect mucous membranes, like the lining of the mouth and even internal organs. When it impacts organs like the intestines, it can cause digestion and nutrition problems.
As these blisters heal and scar repeatedly, they form a layer of skin called granulation tissue. This red, bumpy layer of skin bleeds heavily and easily. This can lead to infection and dehydration or even cause breathing problems if it develops in the mouth or airways.
Dystrophic epidermolysis bullosa
Dystrophic epidermolysis develops in about 3.3 per 1 million people, usually in response to an injury or friction from rubbing or scratching.
The hands, feet, and elbows are most often affected, but blisters can also appear across the entire body. When these blisters form in the mouth or digestive tract, scars form as they heal.
This scarring can cause chewing and swallowing problems that lead to malnutrition and slowed growth.
Scarring can happen in other parts of the body, too, and ongoing scarring in areas across the body can cause:
- skin to fuse between the fingers and toes
- loss of fingernails or toenails
- joint deformities
- restricted movement
- eye inflammation
- vision loss
- increased risk of squamous cell carcinoma
When this type is present at birth, babies can be born with widespread blisters and even areas of missing skin from the birthing process.
Kindler syndrome
Kindler syndrome is a type of epidermolysis bullosa that usually begins at birth or in infancy but lessens with time. Blisters usually form on the backs of the hands and the tops of the feet.
Over time, scarring in these areas can fuse fingers and toes together or give the skin a thin, papery texture.
With this form, you may also have symptoms like:
- patchy skin discoloration
- clusters of blood vessels that appear under the skin
- a combination of both of the above symptoms (poikiloderma)
- thickened skin on the palms of the hands and soles of the feet
- sensitivity to sunlight and ultraviolet rays
Kindler syndrome is a very rare form of this disease, with only about 250 cases reported worldwide.
Epidermolysis bullosa acquisita
Unlike other types of epidermolysis bullosa that are caused by genetic mutations, epidermolysis bullosa acquisita is an autoimmune condition that usually develops in adulthood, typically in the 30s or 40s.
In the typical form of this disease, only “traumatized” skin that’s injured is affected with symptoms like:
- tight blood- or pus-filled blisters on the hands, knees, knuckles, elbows, and ankles
- blisters on the mucous membranes that burst easily
- scarring the formation of white spots called milia as blisters heal
There’s also a generalized inflammatory type of this group of epidermolysis, and it can cause:
- widespread blisters that don’t focus on injured areas of skin
- generalized redness and itching of the skin
- minimal scarring as the blisters heal
The type of presentation you have with this condition can vary over time.
Gene mutations are the cause of most forms of butterfly skin disease, but there are different gene mutations that are common to each subgroup.
Epidermolysis bullosa simplex
This is commonly caused by mutations in genes that make keratin proteins. These proteins give strength and resiliency to the outer layer of your skin, and a lack of it makes you vulnerable to friction and minor irritations.
There’s another gene mutation that causes a more rare form of epidermolysis bullosa simplex called Ogna type. This subgroup is caused by a mutation in the gene that creates a protein called plectin. Plectin helps attach the top layer of your skin — the epidermis — to the layers beneath it.
Junctional epidermolysis bullosa
The genes that are mutated in this form of the disease typically are the ones that make a protein called Iaminin and certain collagens.
Laminin helps strengthen skin and attach it to the top layers. Problems with the development of this protein can cause the layers of the skin to separate.
When the mutation affects genes that produce collagens, it can impair the strength of the tissues that connect your body, like tendons and ligaments. Skin that lacks collagen can also lack strength and flexibility.
Dystrophic epidermolysis bullosa
One gene, in particular, causes this type of epidermolysis bullosa, and that’s the gene that makes type VII collagen. This collagen strengthens and supports connective tissues, which are like the glue that holds your body together.
Without these collagens, skin, ligaments, and other tissues become weakened.
Kindler syndrome
With Kindler syndrome, the gene mutation affects a protein that’s found in epithelial cells. These cells line the surfaces and inner cavities of the body and are crucial to cell movement and function.
Who inherits what?
To understand your chances of inheriting different types of this condition, you have to understand how genes are passed from parent to child.
If only one set of a mutated gene is needed to cause a condition, it’s called autosomal dominant and each child has a 50-percent chance of inheriting this gene from their parents.
If two sets of a gene mutation — one from each parent — is needed to cause a problem, these conditions are called autosomal recessive. This type of mutation is usually passed on by parents who have no symptoms of the disease themselves.
Two carriers have a 25 percent chance of passing a symptomatic form of a condition on to their child, and a 50 percent chance of having a child who’s also a carrier.
Autosomal dominant forms of epidermolysis bullosa include the simplex and dystrophic types. Dystrophic, junctional, and Kindler syndrome types are usually autosomal recessive.
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Epidermolysis bullosa acquisita
The underlying cause of this type of the disease is not genetic, but remains unknown. It’s believed that immune cells target certain types of collagens in this form of epidermolysis.
Since many forms of this disease are genetic, diagnosis usually beings with a family history. A visual inspection of the skin may also be enough to make a diagnosis.
But in most cases, a skin biopsy might be done so that your doctor can examine a sample of your skin closely under a microscope.
In the case of epidermolysis bullosa acquisita, blood testing to check inflammation levels and antibodies may be helpful in making a diagnosis.
There’s no cure for epidermolysis bullosa, no matter which type you have, but it can be managed. Treatment usually involves a combination of:
- wound care
- medications to relieve pain and inflammation
- preventing new injuries
- avoiding complications
Since epidermolysis bullosa can affect many parts of the body, there are a number of complications that can develop and must be treated. These include:
- anemia
- cavities
- constipation
- dehydration
- dry skin
- excessive sweating
- eye problems
- infections
- malnutrition
- movement problems
- narrowing of the mouth or airways
- skin cancer
- slow-healing wounds
Many caregivers of people with this condition are parents caring for their children. Wound care can be the most difficult aspect of care to learn, but it gets easier with time and practice.
You may also be qualified to use an at-home wound care nurse or visit a specialty wound care center. Proper wound care is critical to promote good healing and prevent scar tissue, as well as to head off complications like infection.
You can also increase
- using dressings and padding to protect the skin from injury
- applying aluminum chloride 20 percent to palms and soles to prevent the formation of blisters
- using creams to soften skin and prevent thickening
- nutritional support when there’s digestive involvement
- keeping skin moist and covered
- draining blisters
- watching for early signs of infection
For many people with epidermolysis, the disease begins in infancy but can become less severe over time. Pain and inflammation can be difficult to bear, but the prognosis isn’t always as bad as the symptoms.
In mild cases, you can find therapies and medications that keep the disease under control. In more severe cases where internal organs are involved, the prognosis can become worse.
Mucous membranes and body tissues that become stiff with scars or airways that are blocked by scar tissue can lead to serious or fatal complications. Early diagnosis and aggressive management of these chronic conditions are key.
If you or someone you care for has been diagnosed with this condition, you can try to advance treatment options by participating in a clinical trial. Your doctor can guide you on the process to enroll in clinical trials and help connect you with local resources for care.
There are a number of organizations that support people with this condition and their caregivers.
There are several types of epidermolysis bullosa, and most are caused by genetic mutations. These conditions are rare but can cause chronic, painful blistering.
This blistering can develop on certain parts of your body or be widespread — even affecting your internal organs. Managing these conditions take time, patience, and a lot of effort.
Talk with your doctor or local organizations if you need help managing your symptoms or caring for someone else with this disease.
