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) 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.

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).

Medically Reviewed by a Doctor on 11/13/2015

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