epidermolysis bullosa

This is a rare skin condition characterized by blistering of the skin in response to the slightest trauma. It may be apparent shortly after birth, or may become evident later in childhood when increased activity from sports causes excessive blistering.

There are three main forms:

  • EB simplex is the mildest form. Blisters (bullae) form, but usually do not form scars.
  • dystrophic EB involves blisters that form in deeper layers of the skin. These blisters scar.
    • disease may be mild, with little scarring
    • may be severe, with failure to thrive, scarring of the corneas, involvement of the teeth with caries and gum disease, esophageal narrowing and blockage, and fusion of fingers and toes together as a result of extensive scarring
  • in junctional EB, blisters usually heal without scarring, but repeated blistering at the same site can cause permanent scars. A severe recessively inherited form exhibits widespread involvement with death in the first year of life unfortunately common.

While the initial diagnosis is initially based on the clinical picture, a complete workup with a complete family history, skin biopsy, and possible genetic testing is done.

Treatment basically involves measures to avoid trauma to the skin, and measures to prevent or manage infection of the skin lesions.

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