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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.

Your Question

My cousin has dominant dystrophic epidermolysis bullosa. Is there a chance her future children might also have the condition? Is this condition curable?

Our Answer

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

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.[1] 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

What are some of the pregnancy concerns related to dystrophic epidermolysis bullosa?

If a fetus is at risk for having DEB, a Cesarean section may be recommended to avoid vaginal delivery, which can cause trauma to the skin. It is also recommended that newborns who are at risk for having DEB are evaluated for evidence of blistering so that trauma to the skin can be avoided as much as possible.[1]

Because of the risks to a newborn with DEB, some individuals may be interested in finding out whether the fetus has the condition before birth. The optimal time for learning about genetic risk and discussing the availability of prenatal testing is before pregnancy. Prenatal testing for pregnancies at increased risk for DEB is possible by analyzing DNA from fetal cells obtained by amniocentesis or chorionic villus sampling (CVS). However, the genetic mutation in the affected family member must be known before prenatal testing can be performed. Preimplantation genetic diagnosis (PGD) may be available for families in which the disease-causing mutation has been identified.[1] Questions about genetic risks, genetic testing and prenatal testing can be answered by a genetics professional.
Last updated: 3/6/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

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.[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.[2]
Last updated: 3/6/2011

References
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.