Epidermolysis Bullosa (EB)

  • Medical Author:
    Gary W. Cole, MD, FAAD

    Dr. Cole is board certified in dermatology. He obtained his BA degree in bacteriology, his MA degree in microbiology, and his MD at the University of California, Los Angeles. He trained in dermatology at the University of Oregon, where he completed his residency.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

View the Adult Skin Problems Slideshow Pictures

Epidermolysis bullosa (EB) facts

  • Epidermolysis bullosa skin is exquisitely fragile and susceptible to damage from friction.
  • Epidermolysis bullosa is more than one disease.
  • Epidermolysis bullosa is inherited, except for the acquisita form.
  • Epidermolysis bullosa is produced by mutations in different genes.
  • Severity of disease depends upon which gene is affected.
  • There is no cure for epidermolysis bullosa.
  • Supportive treatment is available for epidermolysis bullosa.

What is epidermolysis bullosa?

Epidermolysis bullosa is a group of inherited conditions that affect the skin and mucus tissue lining the mouth. Epidermolysis bullosa is often manifested at birth or during infancy and characterized by severe fragility and blistering. Epidermolysis bullosa is due to 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 discussion of the mechanobullous diseases.

What are causes and risk factors for epidermolysis bullosa?

Since mechanobullous diseases are inherited, 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. There are four fairly distinctive clinical forms of this condition, and each is associated with different defective proteins: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome. Mechanobullous diseases have been attributed to least 1,000 different mutations in 14 separate genes that code for various structural proteins near the junction of the epidermis and the dermis (the top layers of skin).

Quick GuideRingworm: Treatment, Pictures, Causes, and Symptoms

Ringworm: Treatment, Pictures, Causes, and Symptoms

Epidermolysis Bullosa (EB) Symptoms and Signs

Blisters

Blisters can accompany some types of skin rashes and inflammatory conditions, including certain autoimmune diseases. Depending upon the cause of the blisters, blisters may occur singly or in groups. In contrast to abscesses and boils, which are collections of inflammatory fluid found deep in the tissues, blisters are found in the most superficial layer of skin.

Is epidermolysis bullosa contagious?

Epidermolysis bullosa is not contagious.

What are epidermolysis bullosa symptoms and signs?

The commonality in presentation of all the mechanobullous diseases is

  • skin fragility,
  • erosions of skin,
  • blister formation.

These findings are most frequently noted in areas of friction where shearing forces are greatest. Elbows, knees, hands, and feet are generally involved, although any anatomical area can be affected. The lining tissues of within the mouth can be affected. Although often evident at birth, the condition may occasionally present 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 are likely to die during infancy.

What tests do health-care professionals use to diagnose and assess epidermolysis bullosa?

In an infant in 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 can pinpoint precise structural defects by utilizing commercially available fluorescent antisera. The presence of defective genes can be detected in family members, as well. 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. Pain, metabolic abnormalities, and infection are major problems in these patients. Preventing erosions is a constant challenge. Occasionally, skin cancer can develop at the site of erosions.

Attempts to produce the defective proteins by bone marrow transplantation, local fibroblast transplantation, or the addition of stem cells to the 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 blistering and erosions.

What is the prognosis of epidermolysis bullosa?

The prognosis of epidermolysis bullosa is almost entirely dependent on the specific structural protein that is genetically altered. 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 mutational defect. Families with a history of mechanobullous disease should seek genetic counseling to insure that they understand the risks involved in procreation.

REFERENCES:

El Hachem, May, et al. "Multicentre Consensus Recommendations for Skin Care in Inherited Epidermolysis Bullosa." Orphanet Journal of Rare Diseases 9 (2014): 76.

Gonzalez, Mercedes E. "Evaluation and Treatment of the Newborn With Epidermolysis Bullosa." Seminars in Perinatology 37 (2013): 32-39.

Quick GuideRingworm: Treatment, Pictures, Causes, and Symptoms

Ringworm: Treatment, Pictures, Causes, and Symptoms

Subscribe to MedicineNet's Skin Care & Conditions Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

Reviewed on 11/13/2015
References
REFERENCES:

El Hachem, May, et al. "Multicentre Consensus Recommendations for Skin Care in Inherited Epidermolysis Bullosa." Orphanet Journal of Rare Diseases 9 (2014): 76.

Gonzalez, Mercedes E. "Evaluation and Treatment of the Newborn With Epidermolysis Bullosa." Seminars in Perinatology 37 (2013): 32-39.

Health Solutions From Our Sponsors