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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Generalized dominant dystrophic epidermolysis bullosa


Other Names for this Disease
  • DDEB, generalized
  • DDEB-gen
  • Dominant dystrophic epidermolysis bullosa, generalized
  • Dystrophic epidermolysis bullosa, autosomal dominant
  • Epidermolysis bullosa dystrophica, autosomal dominant
More Names
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Treatment


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How might generalized dominant dystrophic epidermolysis bullosa be treated?

There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB); treatment generally focuses on managing the affected individual's signs and symptoms. For some individuals, such as those that have a mild form of dominant DEB, dystrophic nails may be the only manifestation. However, other individuals may have much more severe problems that need to be managed. Management typically focuses on treating blisters and avoiding or treating infections. It is typically recommended that new blisters be lanced, drained, and in most cases dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Infants and children with severe, recessive DEB and failure to thrive usually require attention to fluid and electrolyte balance and may require nutritional support, including a gastrotomy feeding tube. Anemia is typically treated with iron supplements and transfusions as needed. Other nutritional supplements may include calcium, vitamin D, selenium, carnitine, and zinc. Occupational therapy may help prevent hand contractures. Surgical release of fingers often needs to be repeated.[1]

Surveillance is important for individuals with DEB. Biopsies of abnormal-appearing wounds that do not heal may be recommended in some types of DEB due to predisposition to squamous cell carcinoma, beginning in the second decade of life. Screening for deficiencies of iron, zinc, vitamin D, selenium, and carnitine is typically recommended after the first year of life. Routine echocardiograms are recommended to identify dilated cardiomyopathy, and bone mineral density studies are recommended to identify osteoporosis. Activities and bandages that may traumatize the skin (including all adhesives) should typically be avoided.[1]
Last updated: 3/6/2011

References
  1. Ellen G Pfendner, Anne W Lucky. Dystrophic Epidermolysis Bullosa. GeneReviews. November 4, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1304/. Accessed 3/4/2011.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.