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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is generalized dominant dystrophic epidermolysis bullosa?

How is generalized dominant dystrophic epidermolysis bullosa inherited?

How might generalized dominant dystrophic epidermolysis bullosa be treated?

What is generalized dominant dystrophic epidermolysis bullosa?

Generalized dominant dystrophic epidermolysis bullosa (GDDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. GDDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles.[1] In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of GDDEB may include dystrophic or absent nails,[2] constipation, dental caries and swallowing problems.[1] It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner.[3] Treatment typically includes treating blisters and avoiding infection.[1]
Last updated: 7/22/2011

How is generalized dominant dystrophic epidermolysis bullosa inherited?

This form of dystrophic epidermolysis bullosa (DEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. About 70 percent of all people with autosomal dominant DEB have inherited an altered COL7A1 gene (the gene responsible for DEB) from an affected parent. The remaining 30 percent of affected people have the condition as a result of a new alteration (mutation) in the COL7A1 gene. These cases occur in people with no history of the disorder in their family.[3] Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition. Other, more severe types of DEB are inherited in an autosomal recessive pattern.

Individuals interested in learning about their own risk to have a child with this condition should speak with a genetics professional.
Last updated: 3/6/2011

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.[4]

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.[4]
Last updated: 3/6/2011

References
  1. H. M. Horn. Dominant dystrophic epidermolysis bullosa. DebRA International. 2003; http://www.debra-international.org/old/pib2.htm. Accessed 3/5/2011.
  2. M Peter Marinkovich. Epidermolysis bullosa. eMedicine. June 22, 2010; http://emedicine.medscape.com/article/1062939-overview. Accessed 3/5/2011.
  3. Dystrophic epidermolysis bullosa. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 3/4/2011.
  4. 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.


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