Dominant dystrophic epidermolysis bullosa

What causes dominant dystrophic epidermolysis bullosa?

Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body.

Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis.

COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal.

A diagram of the skin structure including the area of skin implicated in DDEB is provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Click on the link for more.

Last updated on 05-01-20

How is dominant dystrophic epidermolysis bullosa inherited?

Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. 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.

Last updated on 05-01-20

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.

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. Questions about genetic risks, genetic testing and prenatal testing can be answered by a genetics professional.

Last updated on 05-01-20

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.

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."

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.

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.

Recent treatment advancements and therapies under investigation include but are not limited to:

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 on 05-01-20

Name: Dystrophic Epidermolysis Bullosa Research Association of America DEBRA of America 75 Broad Street Suite 300
New York, NY, 10004, United States
Phone: 212-868-1573 Toll Free: 855-CURE-4-EB Fax : 212-868-9296 Email: Url:
Name: Epidermolysis Bullosa Center The EB Center Cincinnati Children's Hospital Medical Center
MLD 3004 3333 Burnet Avenue
Cincinnati, OH, 45229-3039, United States
Phone: 513-636-2009 Email: Url:
Name: DebRA International Am Heumarkt 27/3 1030 Vienna
Phone: +43 1 876 40 30-0 Fax : +43 1 876 40 30-30 Email: Url:
Name: Epidermolysis Bullosa Medical Research Foundation EBMRF 2757 Anchor Ave
Los Angeles, CA, 90064,
Phone: +1-310-205-5119 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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