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Genetic and Rare Diseases Information Center (GARD)

Epidermolysis bullosa simplex

Your Question

My 1.5 year old daughter has epidermolysis bullosa simplex with mottled pigmentation. Is this disease curable? What treatment is available, and how might I find out if specific treatments may be available where I live?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might epidermolysis bullosa simplex be treated?

There is no cure for any of the types of epidermolysis bullosa simplex (EBS). Treatment of EBS typically involves supportive care to protect the skin from blistering, and the use of dressings that will not further damage the skin and will promote healing. Prevention of blisters may involve applying aluminum chloride to palms and soles to reduce blister formation; cyproheptadine may be used to reduce blistering in some individuals with the Dowling-Meara type of EBS. Keratolytics and softening agents for hyperkeratosis (thickening of the skin) of the palms and soles may prevent tissue from thickening and cracking. Prevention of secondary complications (such as infection of blisters) may involve treatment with topical and/or systemic antibiotics or silver-impregnated dressings or gels. Appropriate footwear and physical therapy may preserve ambulation in children with difficulty walking because of blistering and hyperkeratosis. Surveillance is recommended for infection and proper wound healing. Avoiding excessive heat, poorly fitting or coarse-textured clothing and footwear, and activities that traumatize the skin is typically recommended.[1] Other treatments under investigation for epidermolysis bullosa include protein therapy and gene therapy.[2]
Last updated: 1/19/2011

How can I find an expert who has knowledge and experience regarding a specific condition?

Although there is no list of experts for rare diseases, a fact sheet is available on our Web site with tips for finding healthcare professionals and researchers who have experience with a particular condition. Potential resources include patient advocacy groups, researchers conducting clinical trials, and authors of articles published in medical journals. Click here to view our fact sheet. If you are unable to locate an expert using these suggestions, please let us know.
Last updated: 9/29/2014

Other Names for this Disease
  • Epidermolysis bullosa intraepidermic
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