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.

Epidermolysis bullosa (EB) facts

  • Epidermolysis bullosa is a group of diseases produced by one or more mutations in at least one of 20 different genes.
  • Although the skin of all patients with epidermolysis bullosa is exquisitely sensitive to shear force damage, the severity is dependent on the particular defective protein.
  • Epidermolysis bullosa is hereditary, except for the acquisita form.
  • 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 supporting tissue of the skin and mucosa. Epidermolysis bullosa is often appears at birth or during infancy and characterized by severe skin fragility erosions and blistering. 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 discussion of the mechanobullous diseases.

What are 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. There are four 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. 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 are keratin, laminin, type XVII collagen, integrins, lectin, desmoplakin, plakophilin, and plakoglobin.

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, and
  • blister formation.

Health care 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 of 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 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, there is a predisposition to scarring, milia formation, and occasionally squamous cell cancers of the skin.

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 and electron microscopic evaluation may be necessary to pinpoint the 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. 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 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 blistering and erosions.

What is the prognosis of epidermolysis bullosa?

The prognosis of epidermolysis bullosa is almost entirely dependent on the specific structural 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.

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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.

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Medically Reviewed on 10/22/2018
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.

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.
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