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Epidermolysis Bullosa (hemidesmosomal epidermolysi
Tuesday, 30 March 2004
Tuesday, 30 March 2004

What

Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by blister formation whenever there is any pressure on the skin. It is subdivided into three major types based upon what part of the skin is affected: EB simplex, junctional EB, and dystrophic EB.

Who

The frequency of Epidermolysis bullosa is estimated to be 50 per 1 million live births in the United States. Males and females are equally affected as the disorder is inherited in both autosomal recessive and dominant fashions. This means that for some types, only one defective gene is needed for disease (dominant) and in other cases, two defective genes (one from each parent) are necessary (recessive). In some ethnic groups, ie Japanese and Croatians, the incidence of EB is reduced to 6-7 per million births.

Signs and Symptoms

Children with Epidermolysis bullosa may exhibit all of the following:

  • Blisters of all shapes and sizes sometimes in any location on the body including inside the mouth and in the eyes. In some forms these blisters lead to scarring.
  • Growth delay
  • Muscle weakness (in a rare variant)
  • Persistent vomiting from underdeveloped part of stomach (pyloric atresia)
  • Scalp, nail, or tooth abnormalities.
  • Internal blisters can lead to hoarse cry and breathing abnormalities
  • Scarring of fingers, which can lead to loss of normal range of motion and an abnormal position in the finger joints, with some fusion between the fingers.
  • Anemia can develop with bleeding from intestinal blisters. Symptoms are typically worse in the autosomal dominant, junctional EB, and dystrophic EB variants.

Possible Causes

Epidermolysis bullosa is caused by mutations in different genes that produce proteins whose function is to connect and anchor skin cells. The specific type of anchoring protein that is affected determines the subtype of EB. For EB simplex, the protein affected is called keratin. For Junctional EB, the proteins are called laminins. Finally, the protein collagen is affected in dystrophic EB. The type of gene mutation does not predict the severity of the disease.

Diagnosis

The diagnosis of epidermolysis bullosa is generally made by physical examination for the characteristic blisters in infancy. The diagnosis can then be confirmed by skin biopsy (checking a small piece of skin under the microscope). Most children are diagnosed shortly after birth. A complete blood count (CBC) will reveal any anemia or signs of infection from open blisters. The skin biopsy will identify the specific subtype of EB. DNA testing can also be done to confirm the subtype of EB. Occasionally, an endoscopy procedure performed by a gastroenterologist will be needed if gastrointestinal involvement is suspected.

Treatment

The medical treatment of EB is focused to promoting healing of affected skin and protecting against infection. Optimizing wound healing involves good hygiene, proper nutrition, and avoiding agents such as steroids or other chemicals that can be harmful. Consultation with the ophthalmologist (eye doctor) for eye care and gastroenterologist to evaluate the health of the intestines is essential for appropriate treatment. Good oral hygiene with saline rinses and gentle brushing are also important. Surgery to repair any scarring of the hand and to apply skin grafts have been shown to be moderately effective. Finally, experimental gene therapy is also under development.

Prognosis

Children with Epidermolysis bullosa have a variable course and prognosis. Infancy is the most difficult time because of the risk of overwhelming infection from infected blisters. For those that survive beyond infancy, skin cancer is the leading cause of death. There are however, many children with the mild forms of EB who have normal life expectancies.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Medline Plus Health Encyclopedia
Reliable information from NIH for parents.

Dystrophic Epidermolysis Bullosa Research Association
National, non-profit organization working to find a cure for EB.

Epidermolysis Bullosa Through Parents Eyes
Interesting first hand accounts of experiences with EB.

EB infoworld
Touching website with good information created by a mother of child with EB.

EB Medical Research Foundation
Volunteer run website to build support for EB research.

Contact a Family
UK based website with some useful information.

Google Search for Epidermolysis Bullosa (hemidesmosomal epidermolysi

References and Sources

Marinkovich MP, “Epidermolysis bullosa” www.emedicine.com/derm/topic124.html Fine, J.D., et al. (2004) Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol.Vol. 29(2):122-127. Paller, A.S. (2004) In this issue: The complexities of epidermolysis bullosa “simplex”. J. Invest Dermatol. Vol 122 (1):6-7.