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Epidermolysis bullosa simplex
Other Names for this Disease
- Epidermolysis bullosa intraepidermic
- Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysis bullosa
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, generalized
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Your QuestionMy 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?
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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. Other treatments under investigation for epidermolysis bullosa include protein therapy and gene therapy.
Last updated: 1/19/2011
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. If you are unable to locate an expert using these suggestions, please let us know. Click on the following link to view the fact sheet: http://rarediseases.info.nih.gov/GARD/FindAnExpert.aspx
Last updated: 3/21/2012
- Ellen G Pfendner and Anna L Bruckner. Epidemolysis Bullosa Simplex. GeneReviews. August 11, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1369/. Accessed 1/19/2011.
- Kevin Berman. Episdermolysis Bullosa. MedlinePlus. October 31, 2008; http://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/19/2011.