- Causes & Risk Factors
- Signs & Symptoms
- Life Expectancy
What is epidermolysis bullosa?
Epidermolysis bullosa is a group of inherited conditions that affect the supporting tissue of the skin and mucosa. It often appears at birth or during infancy and is characterized by severe skin fragility, erosions, and blisters.
Epidermolysis bullosa is due to one or multiple defective genes that normally synthesize structural proteins that are involved in the adherence of the epidermis (the superficial layer of skin) to the dermis (the deeper layer of the skin). Another term for this group of conditions is "mechanobullous disease," which distinguishes it from conditions that may appear superficially similar but are produced by autoimmune destruction of some of the same proteins that are defective in epidermolysis bullosa.
Epidermolysis bullosa acquisita (another condition) is an inappropriately named example of an autoimmune problem that really does not belong in the discussion of mechanobullous diseases.
What are the types of epidermolysis bullosa (EB)?
There are four distinct clinical forms of this condition, and each is associated with different defective proteins:
- Epidermolysis bullosa simplex (EB simplex)
- EBS localized (Weber-Cockayne), generalized other EBS, Dowling Meara EBS, EBS with muscular dystrophy, EBS with mottled pigmentation, EBS Ogna, EBS with pyloic atreseia, EBS circinate migratory, lethal acantolythic EB, EBS superficialis (EBSS), and plakophilin deficiency
- Junctional epidermolysis bullosa (junctional EB)
- Herlitz JEB and JEB-other (including JEB with pyloric atresia, non-Herlitz JEB, and many other subtypes)
- Dystrophic epidermolysis bullosa (dystrophic EB)
- Recessive DEB (RDEB)
- Dominant DEB (DDEB)
- Recessive DEB (RDEB)
- Kindler syndrome
What are the causes and risk factors for epidermolysis bullosa?
Since mechanobullous diseases are hereditary, the presence of a family history of this condition is the major risk factor.
Mechanobullous diseases are rare. Their prevalence in the U.S. population is estimated to be about eight cases per million. Mechano-bullous diseases have been attributed to at least 1,000 different mutations in 20 separate genes that code for various structural proteins near the junction of the epidermis and the dermis (the top layers of skin).
Some of the proteins involved include:
- type VII collagen,
- type VII collagen,
- plakophilin, and
Is epidermolysis bullosa contagious?
Epidermolysis bullosa is not contagious.
What are symptoms and signs epidermolysis bullosa?
The commonality in the presentation of all the mechanobullous diseases includes the following symptoms:
- fragile skin,
- erosions of skin, and
- blister formation.
Healthcare professionals most frequently note these findings in areas of friction where shear forces are greatest. Elbows, knees, hands, and feet are generally involved, although EB affects any anatomical area. EB may affect the lining tissues within the mouth. Although often evident at birth, the condition may occasionally appear in young adults depending on the gene involved.
There can be a spectrum of severity so that some affected individuals may have localized disease and reach adulthood with few problems, while others with a more severe form are likely to die during infancy. There are associated conditions in some patients, including muscular dystrophy, pyloric atresia, and reno-urinary defects. In dystrophic epidermolysis bullosa, there is a predisposition to scarring, milia formation, and occasionally squamous cell carcinoma.
How do healthcare professionals diagnose epidermolysis bullosa?
In an infant for whom this diagnosis is considered, it is vital to exclude other treatable diseases first. In addition, it is often impossible to come to an accurate diagnosis based on the clinical appearance of the patient. It is often necessary to involve a dermatologist with special expertise in pediatrics to evaluate the affected infant.
Special tests on the skin biopsy specimens are required to determine which component of the skin is defective. Immunofluorescence mapping and electron microscopic evaluation may be necessary to pinpoint precise structural defects.
Newly available genetic tools can detect the presence of defective genes in the patient and family members. In families with a history of mechanobullous disease, prenatal testing is available. Such tests are likely to be available only at university medical centers.
What is the treatment for epidermolysis bullosa?
Since the problem in all mechanobullous diseases is an absent or defective structural protein, there is no cure. At this time, there is also no specific treatment other than supportive care. The care would be similar to that given in a burn center environment except that the condition never resolves.
Attempts to produce the normal proteins by bone marrow transplantation, local fibroblast transplantation, or the addition of stem cells to affected patients have met with limited success. Such interventions are available only through participation in investigational studies.
Are there home remedies for epidermolysis bullosa?
In mild localized cases, it is possible to care for the erosions as one would care for any superficial wound. Additionally, it is important to consider techniques for minimizing friction in areas predisposed to blisters and erosions.
What is the prognosis of epidermolysis bullosa?
The prognosis of epidermolysis bullosa is almost entirely dependent on the specific structure of the genetically altered protein. That is why it is of the utmost importance to make an accurate diagnosis. Mild localized forms of epidermolysis bullosa simplex exist. Most of these patients can expect to live into adulthood.
Is it possible to prevent epidermolysis bullosa?
The only conceivable way to prevent this or any other genetic disease is by identifying genetic carriers and insuring that any offspring they produce are free from the mutations. Families with a history of mechanobullous disease should seek genetic counseling to insure that they understand the risks involved in procreation.
Fine JD, Bruckner-Tuderman L, et al. "Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification." J Am Acad Dermatol 70 (2014): 1103-26.
Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. "Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006." J Am Acad Dermatol 60.2 Feb. 2009: 203-11.
Gonzalez, Mercedes E. "Evaluation and Treatment of the Newborn With Epidermolysis Bullosa." Seminars in Perinatology 37 (2013): 32-39.
Has, Cristina, and Judith Fischer. "Inherited Epidermolysis Bullosa: New Diagnostics and New Clinical Phenotypes." Experimental Dermatology (2018): 1-7. DOI: 10.1111/exd.13668.
Rashidghamat, Ellie, and John A. McGrath. "Novel and Emerging Therapies in the Treatment of Recessive Dystrophic Epidermolysis Bullosa." Intractable & Rare Diseases Research 6.1 (2017): 6-20.
Top Epidermolysis Bullosa (EB) Related Articles
Blisters PictureWearing shoes that do not fit properly or wearing shoes without socks can cause blisters, which can become infected. See a picture of Blisters and learn more about the health topic.
Genetic DiseasesThe definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
11 Surprising Things Your Genes Say About YouExplore what role DNA plays in your health, love life, and more in this WebMD slideshow.
How Do I Treat a Blood Blister?Blood blisters are typically harmless and heal on their own over time. Learn different methods of treating a blood blister and how to prevent infection.
How Do You Heal a Blister on Your Foot Fast?Blisters are small fluid pockets of clear fluid that form in the superficial skin layers. Most blisters develop because of friction between your skin and a foreign body. Your new shoes or your marathon running practice may chaff your skin and cause you to blister. A blister may also form following a burn injury.
ScarsScar formation is a natural part of the healing process after injury. The depth and size of the wound incision and the location of the injury impact the scar's characteristics, but your age, heredity and even sex or ethnicity will affect how your skin reacts.
Skin BiopsyDuring a skin biopsy, a piece of skin is removed under a local anesthesia and examined using a microscope. The different types of skin biopsy include shave biopsy, punch biopsy, and excisional biopsy. Skin biopsies are performed to diagnose skin growths, skin conditions, and skin cancers.
Skin Cancer (Nonmelanoma Skin Cancer or Keratinocyte Cancer)Skin cancers occur when skin cells undergo malignant transformations and grow into tumors. The most common types of skin cancer, basal cell carcinoma and squamous cell carcinoma, are highly curable when they are diagnosed and treated early. Sun exposure, tanning beds, depressed immune system, radiation exposure, and certain viral infections are risk factors for skin cancer. Skin cancers are treated with surgery or radiation. The prognosis of nonmelanoma skin cancers is generally very good.
Skin Problems: Blisters Causes and TreatmentBlisters can result from an ill-fitting shoe, a bug bite, or a serious health problem like shingles. Find out more from WebMD about what causes them and how to treat them.
Skin Problems: Contagious Rashes, Bumps, and BlistersWhy do rashes, bumps, and blisters appear on your skin? There are several medical causes. Find out what causes bumps, rashes, and other skin conditions in adults and children. Whether on the arm, leg, trunk, or head, itchy or painful rashes and bumps can often be treated using home remedies or medicine.
Viral Skin Rashes: Pictures of Rashes, Blisters, and SoresViral skin rashes in adults and toddlers are due to a variety of different viruses. Itching, inflammation, and other symptoms like blisters and sores are treated with topical creams, over-the-counter pain relievers, steroids, and other treatments. See pictures of these viral skin conditions to identify your rash.
What Are Causes of Blisters in the Mouth?What causes blisters inside the mouth? Learn why they appear and what to do if you have mouth blisters.
What Are the Causes of Blisters on the Hands?Although blisters most commonly form on feet, they can occur anywhere on the body. Hand blisters and finger blisters are a common sight in everyday life. Learn what causes hand and finger blisters, when to see a doctor, and how to treat hand and finger blisters.
What Causes Blisters on Lips?What are blisters on lips and what causes blisters on lips? Learn about these mouth sores, what causes blisters on lips, and how to treat blisters on lips. What to know about getting rid of blisters on the tongue. Learn about the causes of blisters on the tongue and possible treatment methods.
What Causes Blisters on Your Feet?What are foot blisters and what causes them? Learn about the types of foot blisters, what causes them, and how to treat them.