Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentCoping
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Coping
The term epidermolysis bullosa (EB) refers to a group of rare skin conditions that cause the skin to form excess blisters because it is so fragile. This usually happens because of genetic mutations that cause the skin to be not as strong as it should be. Though EB is considered a rare disease, diseases in this group affect nearly half a million people globally.
Verywell / JR Bee
Blisters are the key symptom of EB. These often appear in infancy. Unlike someone without EB, these blisters may form with only minimal pressure on the skin. These may become chronic, painful wounds. In some people with EB, only the skin is affected, but other symptoms are possible. Different subtypes of EB may cause somewhat different symptoms.
The severity of these symptoms can also vary quite a bit. Sometimes EB causes severe disability, causing severe blisters over much of the body. But other times it may only cause mild symptoms that require prevention techniques, with blisters only appearing on the hands and feet. This is partly based on the specific type and severity of the genetic mutation.
Some possible problems include:
Complications
These problems can cause additional medical complications. For example, blisters are prone to bursting open, which may lead to infection. In some cases, these can be life-threatening. Infants with severe forms of EB are particularly at risk.
Blisters in the mouth and throat can lead to nutritional deficiencies. This, in turn, may cause poor growth or other medical problems such asanemiaor poor wound healing. Blisters in the anal region may cause constipation. Blisters in the throat might cause breathing difficulties in some infants.
Some people with severe EB also develop contractures, which can cause abnormal shortening or bending of certain joints. This can happen from repeated blistering and scar formation. This may lead to reduced mobility.
Infants born with pyloric atresia (a minority of people with EB) will have symptoms like vomiting, abdominal distension, and lack of stool. It is a medical emergency that requires surgery soon after birth.
People with certain types of EB also have an increased risk ofsquamous cell skin canceras adolescents or adults.
Seeking Emergency TreatmentSeek medical attention immediately if your child has difficulty breathing or swallowing. Also see a healthcare provider for any signs of infection such as chills, fever, or red, painful, foul-smelling skin.
Seeking Emergency Treatment
Seek medical attention immediately if your child has difficulty breathing or swallowing. Also see a healthcare provider for any signs of infection such as chills, fever, or red, painful, foul-smelling skin.
In severe cases, your child may need immediate, life-saving treatment.
Normal skin
EB skin
So far, over 20 different genes have been identified that can lead to EB. These genes make different proteins that are important in helping your skin maintain its strength. If there is a genetic mutation in one of these proteins, it might cause the skin cells not to bind as tightly to each other. This can cause the skin to be fragile, causing cells to break apart from each other with only minimal pressure.
This is what causes blisters to form so easily. As an example, mutations in genes that make certain kinds of collagen can cause EB.
Types of EB
Epidermolysis bullosa can be classified into subtypes, partly based on thespecific part of the skinthat they affect.
Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is the most common form of EB. This type of EB affects only the outer layer of skin, the epidermis. Typically, it has less severe symptoms than other forms of EB. There is a specific subtype of EBS that comes with symptoms of muscular dystrophy, but not all people with EBS have this issue.
Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) affects the part of the skin at the most interior layer of the epidermis. This type of EB may be severe, with symptoms beginning in infancy.
Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa (DEB) affects the part of the skin called the dermis, found in a deeper layer than the epidermis.
A specific type of dystrophic EB, called recessive dystrophic EB (RDEB) is generally the most severe form of the disease.
RDEB has the greatest potential for affecting internal organs and causing significant disability or even death.
Kindler Syndrome
This is a very rare form of EB that causes easy blistering and extreme sun sensitivity. Dark patches may appear on the skin, and it may appear dry and thin.
Epidermolysis Bullosa Acquisita
The initial part of diagnosis is a thorough medical history, which should include the individual’s personal medical history and family history. This includes questions about symptoms and when they began.
A thorough medical exam is also an important part of a diagnosis. The healthcare provider should perform a medical exam of the whole body, including a careful examination of the skin. Taken together, the medical history and clinical exam are often enough for a practitioner to make a preliminary diagnosis of EB.
A next step is often skin biopsy. For this, a clinician removes a small section of the affected skin, after first cleaning and numbing the area with an anesthetic. Then the sample can be analyzed in a laboratory. This can help identify the subtype of EB.
Genetic analysisis also often part of the diagnosis. For this, a small blood sample is taken. Then special genetics tests are used to identify the specific genetic mutation causing the disease. This may give information about the severity of the condition as well as the specific symptoms that might be likely to occur. It also gives information about how the gene might be expected to be inherited in the family.
It’s also important that people with EB have regularskin examinationsat least once a year to check for any early signs of skin cancer.
Unfortunately, treatment for EB is still quite limited. Treatment focuses on preventing damage, lessening the impact of symptoms, and preventing and treating complications. Currently, no treatment works to treat the disease process itself, only the complications from EB.
Preventing Skin Damage
One of the most important things to do when managing EB is to prevent the formation of blisters as much as possible. Even minor trauma may cause a blister to form. Some prevention techniques are as follows:
Lessening Symptoms
People with EB may need pain medications to lessen their discomfort. Different medications may also help to lessen itching.
Treating and Preventing Complications
Wound care is a very important aspect of treatment for EB. This will help prevent serious infection and allow for more rapid healing. Many people with EB will have wound dressings that need to be changed every day or two. A nurse may be able to provide you will special education and assistance in managing this problem.
Other aspects of care might include:
In 2023, the Food and Drug Administration (FDA) approved two drugs for treating EB:
Investigational Treatments
Researchers are looking at new treatments that might one day be used to treat EB more directly. Some possible future treatments might involve bone marrow transplantation, gene therapies, or other advances. Some of these therapies may be undergoing clinical trials. Talk to your healthcare provider if you are interested in potentially participating in a clinical trial. Or check out the United Statesdatabase for clinical trials.
Inheritance
If EB runs in your family, or if you have already had a child with EB, you may find it helpful to speak to a genetic counselor. This person can give you an idea of the risks of having another child with EB in the future. Prenatal testing may be possible for some types of EB.
Dealing with a chronic disease is never easy. Don’t hesitate to reach out for psychological support from a professional. Many people dealing with EB find it helpful to connect with others with this condition. For example, patient networks such as theDystrophic Epidermolysis Bullosa Research Association of Americanhave made it easier to connect with others who understand what you are experiencing.
A Word From Verywell
Coping with a chronic condition like epidermolysis bullosa is a challenge. For many people, it will require daily care and attention. New parents can be understandably anxious about learning how to manage the condition in their child. But learning as much as you can about EB and how to prevent its complications can help you feel more empowered and in control. Your medical team will also be available to help you and your family make the best possible medical decisions.
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7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.American Academy of Dermatology,Epidermolysis bullosa.Fine JD, Bruckner-Tuderman L, Eady RA, et al.Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.J Am Acad Dermatol. 2014;70(6):1103-26. DOI:10.1016/j.jaad.2014.01.903.Jain SV, Murrell DF.Psychosocial impact of inherited and autoimmune blistering diseases.Int J Womens Dermatol. 2018;4(1):49-53. DOI:10.1016/j.ijwd.2017.11.004.Kiritsi D, Nyström A.Recent advances in understanding and managing epidermolysis bullosa.F1000Res. 2018;7:F1000 Faculty Rev-1097. DOI: 10.12688/f1000research.14974.1Food and Drug Administration.FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa.Food and Drug Administration.Fulsvez label.Uitto J, Has C, Vahidnezhad H, et al.Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa.Matrix Biol. 2017;57-58:76-85. DOI:10.1016/j.matbio.2016.07.009.
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.American Academy of Dermatology,Epidermolysis bullosa.Fine JD, Bruckner-Tuderman L, Eady RA, et al.Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.J Am Acad Dermatol. 2014;70(6):1103-26. DOI:10.1016/j.jaad.2014.01.903.Jain SV, Murrell DF.Psychosocial impact of inherited and autoimmune blistering diseases.Int J Womens Dermatol. 2018;4(1):49-53. DOI:10.1016/j.ijwd.2017.11.004.Kiritsi D, Nyström A.Recent advances in understanding and managing epidermolysis bullosa.F1000Res. 2018;7:F1000 Faculty Rev-1097. DOI: 10.12688/f1000research.14974.1Food and Drug Administration.FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa.Food and Drug Administration.Fulsvez label.Uitto J, Has C, Vahidnezhad H, et al.Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa.Matrix Biol. 2017;57-58:76-85. DOI:10.1016/j.matbio.2016.07.009.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
American Academy of Dermatology,Epidermolysis bullosa.Fine JD, Bruckner-Tuderman L, Eady RA, et al.Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.J Am Acad Dermatol. 2014;70(6):1103-26. DOI:10.1016/j.jaad.2014.01.903.Jain SV, Murrell DF.Psychosocial impact of inherited and autoimmune blistering diseases.Int J Womens Dermatol. 2018;4(1):49-53. DOI:10.1016/j.ijwd.2017.11.004.Kiritsi D, Nyström A.Recent advances in understanding and managing epidermolysis bullosa.F1000Res. 2018;7:F1000 Faculty Rev-1097. DOI: 10.12688/f1000research.14974.1Food and Drug Administration.FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa.Food and Drug Administration.Fulsvez label.Uitto J, Has C, Vahidnezhad H, et al.Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa.Matrix Biol. 2017;57-58:76-85. DOI:10.1016/j.matbio.2016.07.009.
American Academy of Dermatology,Epidermolysis bullosa.
Fine JD, Bruckner-Tuderman L, Eady RA, et al.Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.J Am Acad Dermatol. 2014;70(6):1103-26. DOI:10.1016/j.jaad.2014.01.903.
Jain SV, Murrell DF.Psychosocial impact of inherited and autoimmune blistering diseases.Int J Womens Dermatol. 2018;4(1):49-53. DOI:10.1016/j.ijwd.2017.11.004.
Kiritsi D, Nyström A.Recent advances in understanding and managing epidermolysis bullosa.F1000Res. 2018;7:F1000 Faculty Rev-1097. DOI: 10.12688/f1000research.14974.1
Food and Drug Administration.FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa.
Food and Drug Administration.Fulsvez label.
Uitto J, Has C, Vahidnezhad H, et al.Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa.Matrix Biol. 2017;57-58:76-85. DOI:10.1016/j.matbio.2016.07.009.
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