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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dominant dystrophic epidermolysis bullosa


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

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How might dominant dystrophic epidermolysis bullosa be treated?

There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB). Treatment generally focuses on managing signs and symptoms. For some individuals, such as those that have a mild form of dominant dystrophic epidermolysis bullosa (DDEB), 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.[1]

Wound care usually included treatment of new blisters by lancing and draining. Additionally in most cases, wounds are then dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Due to the increased risk of bacterial resistance, topical antibiotic ointments and antimicrobial dressings should be reserved for those wounds that are colonized with bacteria and fail to heal, referred to as “critical colonization."[1][2]

Individuals with epidermolysis bullosa (EB) have increased caloric and protein needs due to the increased energy utilized in wound healing. Involvement of the digestive system in some forms of EB may limit nutritional intake. Infants and children with more severe forms of EB 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.[1][2]

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]

Recent treatment advancements and therapies under investigation include but are not limited to[1][2][3]
DEBRA International has developed clinical practice guidelines for different aspects of treating EB including wound care and pain management. Click on the link to see their completed guidelines. 
Last updated: 4/8/2016

References
  1. Pfendner EG & Lucky Aw. Dystrophic Epidermolysis Bullosa. GeneReviews. February 26, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1304/.
  2. Satoru Shinkuma. Dystrophic epidermolysis bullosa: a review. Clin Cosmet Investig Dermatol. 2015; 8:275-284. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451851/.
  3. Jouni Uitto, Leena Bruckner-Tuderman, Angela M. Christiano , John A. McGrath, Cristina Has, Andrew P. South, Brett Kopelan, E. Clare Robinson. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of DEBRA International Research Symposium EB2015. Journal of Investigative Dermatology. 2016; 136:352-358. http://www.ncbi.nlm.nih.gov/pubmed/26802230.


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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.
Other Names for this Disease
  • Dominant dystrophic epidermolysis bullosa, generalized
  • DDEB, generalized
  • DDEB-gen
  • Epidermolysis bullosa dystrophica, autosomal dominant
  • Dystrophic epidermolysis bullosa, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.