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Epidermolysis Bullosa (EB)

Last updated Nov. 6, 2019

Approved by: Krish Tangella MD, MBA, FCAP

Image showing a five- year-old boy diagnosed with congenital epidermolysis bullosa.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Acantholysis Bullosa
  • Koebner Epidermolysis Bullosa
  • Weber-Cockayne Syndrome

What is Epidermolysis Bullosa? (Definition/Background Information)

  • Epidermolysis Bullosa (EB) is a group of disorders in which there is blister formation in the skin and or mucosal membranes after minimal trauma. It is usually inherited (passed on to children)
  • In Epidermolysis Bullosa, mutations of the genes encoding proteins (that bind the 3 skin layers) is defective or nonfunctional, which leads to skin fragility. Hence, a minor injury, such as friction or rubbing, can separate the skin layers easily, resulting in painful skin tearing or blistering
  • EB is not a preventable condition. However, blistering and complications can be prevented to a certain extent. There are many forms of Epidermolysis Bullosa
  • There is also no cure for EB. The treatment offered is symptomatic including blister wound care, use of painkillers, nutritional support, and supportive care
  • The prognosis depends on the type of Epidermolysis Bullosa. Junctional EB individuals usually die within the first year. Other minor types of EB can expect to live normal lives with appropriate care

Many types of Epidermolysis Bullosa have been identified; of which, 3 are major types. These include:

  • Epidermolysis Bullosa Simplex:
    • It is the most common type, accounting for over 90% of EB individuals (in the US)
    • The condition is inherited in an autosomal dominant manner
    • It is milder compared to other EB types, and usually no scarring is seen
    • Separation involves the epidermis of the skin
    • The mutated genes encode proteins Keratin 5, Keratin 15, and Plectin
    • It is usually present at birth or during infancy
    • The condition commonly affects the palms of the hands and soles of the feet
  • Dystrophic Epidermolysis Bullosa:
    • It can be inherited in an autosomal dominant or autosomal recessive manner. Recessive inheritance is more severe
    • The mutated genes encode proteins Collagen (type VII)
    • It can be mild to severe in presentation
    • Separation involves the upper dermis of the skin
  • Junctional Epidermolysis Bullosa:
    • It is the most severe form of EB
    • Separation involves the junction of epidermis and skin
    • The mutated genes encode proteins Plectin, Laminin 332, and a6b4 Integrin
    • The condition presents itself at birth
  • Epidermolysis Bullosa Acquisita is an acquired form of EB. It is a rare condition that is considered to occur due to autoimmune mechanisms (when the body immunity fights against its own tissues)

Who gets Epidermolysis Bullosa? (Age and Sex Distribution)

  • Epidermolysis Bullosa most commonly affects neonates and infants. It is a congenital condition. However, milder forms can be present during childhood and early adulthood phase
  • No gender, racial, or ethnic preference is noticed
  • The condition can occur worldwide

What are the Risk Factors for Epidermolysis Bullosa? (Predisposing Factors)

  • A positive family history of Epidermolysis Bullosa increases one’s risk of this condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Epidermolysis Bullosa? (Etiology)

Epidermolysis Bullosa (EB) is caused due to mutations of the genes encoding proteins that are responsible for holding the layers of skin together.

  • The normal human skin is made up of 3 layers called the epidermis, dermis, and subcutis. Specific proteins anchor these layers together so that they do not move away from each other. In individuals with Epidermolysis Bullosa, the protein anchors between the skin layers are defective or nonfunctional
  • The defective or nonfunctional protein causes the skin to become weak or fragile. The resulting skin fragility causes blistering or tearing of skin and or mucosal membranes even with the slightest of injury
  • As of now 18 types of mutations have been identified. These mutations are inherited (acquired from parents). Rarely, it may be due to spontaneous mutation (not acquired from parents)
  • Epidermolysis Bullosa can be inherited in an autosomal recessive manner or autosomal dominant manner:
    • Junctional Epidermolysis Bullosa and one type of Dystrophic Epidermolysis Bullosa are inherited in an autosomal recessive manner. These tend to be severe than dominantly-inherited EB
    • Epidermolysis Bullosa Simplex and one type of Dystrophic Epidermolysis Bullosa are inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Epidermolysis Bullosa?

The signs and symptoms of Epidermolysis Bullosa depend on the type of EB. They include:

  • Fluid-filled blisters and sores, on the hands and feet, inside the oral cavity and throat, and around the eyes, nose, and mouth
  • Scarring of skin
  • Mila: Tiny white bumps or pimples in the skin
  • Disfigurement (thickened) or loss of fingernails and toenails
  • Formation of blisters in the esophagus, upper airway, stomach, intestines, and urinary tract
  • Difficulty in swallowing due to blister in esophagus (the food pipe)
  • Difficulty breathing or cough due to blistering in the respiratory tract passages
  • Difficulty in feeding or chewing due to blister formation in the gastrointestinal tract
  • Difficulty in walking due to blisters in the feet
  • Pigmentation of skin
  • Thickening of skin of the palms and soles
  • Formation of blisters in the scalp followed by scarring and loss of hair
  • Skin appears to be very thin (atrophy of skin)
  • Tooth decay or improper formation of tooth enamel (discolored tooth)
  • Symptoms become prominent due to sweating, especially in hot weather
  • Most blisters heal without scarring

How is Epidermolysis Bullosa Diagnosed?

The following procedures may be used to diagnose Epidermolysis Bullosa:

  • Thorough evaluation of the individual’s medical history and a complete physical examination including of the skin, mouth, face, and other body regions
  • During history-taking the physician may want to know the following:
    • When the symptoms began and whether they are becoming worse
    • About one’s personal and family history of skin diseases, birth moles, etc.             
  • The appearance of the skin, together with the family history may help in making a preliminary diagnosis of Epidermolysis Bullosa
  • Skin biopsy: In this procedure, the physician removes a sample of the skin tissue and sends it to the laboratory for a histopathological examination. The pathologist examines the biopsy under a microscope and arrives at a definitive diagnosis after a thorough evaluation of the clinical and microscopic findings, as well as by correlating the results of special studies on tissues (if any performed).
    • Specialized tests, which will help in diagnosing the specific type of EB, include electron microscopy, immune-fluorescent mapping, and other studies
  • Genetic testing: Blood sample is analyzed for mutations associated with EB

Other tests that may be required depending on the clinical situation include:

  • Wound culture for bacterial infection
  • Upper gastrointestinal endoscopy
  • Blood tests for nutritional deficiencies
  • Blood tests, such as complete blood count, to determine one’s overall well-being

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Epidermolysis Bullosa?

The complications of Epidermolysis Bullosa include:

  • Secondary skin infections: The blisters can make the skin open to bacterial infection, such as staphylococcal infection, which may lead to sepsis (a life-threatening, widespread infection causing shock and death)
  • Malnutrition: This can occur due to blisters in the gastrointestinal tract, which can cause difficulty in swallowing. An episode of Epidermolysis Bullosa can make eating difficult. Malnutrition may result in vitamin and mineral deficient states, leading to stunted growth, affecting normal growth
  • Scarring can result in disfigurement-like fusion of the fingers and toes. Contractures (scarring) of legs can result in limited mobility of joints
  • Iron deficiency due to malnutrition can cause anemia
  • Skin cancer: Squamous cell carcinoma can arise from the wound of EB. This is especially possible in autosomal recessive type of EB
  • Esophagus can become constricted over time, due to blistering and scarring. This can result in swallowing difficulties

Death: Infants with severe Epidermolysis Bullosa may have widespread whole-body blistering, blistering of the internal organs, malnutrition, and loss of fluids, or infection, which may ultimately lead to death.

How is Epidermolysis Bullosa Treated?

Epidermolysis Bullosa cannot be cured. The treatment is aimed at providing symptomatic-relief with the prevention of further complications.

  • A multidisciplinary team approach is important when caring for individuals affected by EB. They may include primary care physician, dermatologist, surgeon, physical therapist, nutritionist, specialist nurse, and even social workers
  • Skin care: The blisters may be large in size and many in number; once they break open, the skin may be infected. The following methods recommended by the physician can ensure better care of the blisters and skin:
    • Puncture blisters: The blisters may be pierced open to drain the fluid that has accumulated inside. This can help prevent the blisters from spreading to other parts of the body
    • Use of antibiotic ointment, petroleum jelly, or other moisturizing substances to heal the blisters, which are then covered with a bandage
    • Use of disinfectant solution: Sometimes, the bacterial infections do not heal very easily; in such cases, wetting the wound in diluted vinegar solution may help in germ removal
  • Surgery:
    • Severe blistering and scarring can lead to disfigurement; the fingers and toes may get merged or bent at the joints. The physician may recommend surgery to correct such deformities
    • Blistering can also lead to the narrowing of the esophagus, which makes eating very difficult. Surgery can help rectify this abnormality
    • To help the child get nutritious food and gain weight, a tube may be surgically inserted to send food directly to the stomach
  • Physical therapy:
    • Consulting sessions with a physical therapist can help improve the condition of the patient with Epidermolysis Bullosa
    • Swimming may also be helpful in rectifying the deformities which has resulted due to blistering and scarring. 

How can Epidermolysis Bullosa be Prevented?

Epidermolysis Bullosa cannot be prevented, as it is a genetically inherited condition. The following steps may be followed to limit blister formation and prevent further complications:

  • The affected child has to be handled very gently, because the blisters and sores may be painful. Gentle handling also minimizes the chances of tearing the skin
  • Maintaining a cool room temperature so as to minimize sweating
  • Applying lubricants (petroleum jelly) on the skin so as to keep it moist
  • Dress should be worn loose (not tight-fitting) and should be of soft texture
  • Fingernails of the child should be trimmed regularly to prevent scratching and injuring the skin
  • Contact sports or other physical activities that are ‘rough’ should be completely avoided
  • Utmost care must be taken while dressing the blisters and sores with non-adhesive bandage

What is the Prognosis of Epidermolysis Bullosa? (Outcomes/Resolutions)

  • The prognosis depends on the type of Epidermolysis Bullosa
  • Children with Junctional EB usually die within the first year
  • Individuals with other minor types of EB can expect to live normal lives with appropriate care

Additional and Relevant Useful Information for Epidermolysis Bullosa:

Epidermolysis Bullosa is also referred to as Goldscheider Disease, after a German neurologist Alfred Goldscheider, who first studied and described this genetic disorder.

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 28, 2015
Last updated: Nov. 6, 2019