Epidermolysis bullosa

How is epidermolysis bullosa inherited?

Inheritance of epidermolysis bullosa (EB) may be either autosomal dominant or autosomal recessive, depending on the type and subtype of inherited EB present:

A condition is autosomal dominant if having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. While many people with an autosomal dominant form of EB have a parent with EB, some cases result from a new mutation, occurring for the first time (called a de novo mutation). A person with a de novo mutation still has a 50% chance to pass the mutation on to each of his/her children.

In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene in each cell to have EB. Typically, a person with EB inherits one mutated copy of the gene from each parent, who are referred to as carriers. Carriers usually do not have symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% chance to be affected, a 50% chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.

Epidermolysis bullosa acquisita (an acquired form of EB) is a rare autoimmune disorder and is not inherited.

Last updated on 05-01-20

If a person with epidermolysis bullosa has no family history of the disease, how is the mode of inheritance established?

Epidermolysis bullosa (EB) can have either an autosomal dominant or autosomal recessive mode of inheritance in epidermolysis bullosa simplex (EBS) and dystrophic epidermolysis bullosa (DEB). Kindler syndrome and junctional epidermalysis bullosa (with the exception of one report, to our knowledge) are autosomal recessive. The mode of inheritance in a given family is usually established by analyzing the family history (pedigree analysis).

EBS in families in which only one child is affected (and the parents are unaffected) could be either autosomal dominant (as the result of a de novo gene mutation) or autosomal recessive. A de novo dominant mutation is the more likely mode of inheritance. The two modes of inheritance can usually be distinguished based on results of immunohistochemistry testing.

The only accurate method to determine the mode of inheritance in a person with DEB is molecular genetic testing to identify the responsible mutation(s). Symptoms, severity, and other types of lab results alone are not sufficient. Until recently, mutations in the responsible gene were considered 100% penetrant (meaning that all people with mutations would be affected). However in several affected families, a person with a mutation for dominant DEB had no signs of the disease.

People with questions about the inheritance of their condition and genetic risks to themselves or family members should speak with a genetics professional.

Last updated on 05-01-20

Are there research studies looking at new treatments for wound healing in individuals with epidermolyisis bullosa?

ClinicalTrials.gov lists trials that are studying or have studied wound healing in individuals with epidermolysis bullosa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Last updated on 05-01-20

How can I locate physicians or researchers who are knowledgeable about epidermolysis bullosa?

The Dystrophic Epidermolysis Bullosa Research Association of America, Inc. (DEBRA) offers a National Physician Referral Service that connects people suffering with epidermolysis bullosa to qualified and knowledgeable health care professionals in their communities. Click on the link above to learn more about this and other services offered by the DEBRA.

Last updated on 05-01-20

What are the dietary recommendations for patients with epidermolysis bullosa?

Patients with epidermolysis bullosa frequently have oral involvement, with blisters that form in the mouth and esophagus. In some people, these lesions are likely to cause difficulty in chewing and swallowing food and drinks. If breast or bottle feeding results in blisters, infants may be fed using a preemie nipple (a soft nipple with large holes), a cleft palate nipple, an eyedropper, or a syringe. When the baby is old enough to take in food, adding extra liquid to pureed (finely mashed) food makes it easier to swallow. Soups, milk drinks, mashed potatoes, custards, and puddings can be given to young children. However, food should never be served too hot.

In patients with oral involvement, hard or brittle foods and foods with high acid content (eg, tomatoes, orange juice) should be avoided. Ingestion of these foods may injure the mucosa and cause new lesions.

It is important for individuals with epidermolysis bullosa to consult with a dietitian who can identify high-caloric and protein-fortified foods and beverages that help replace protein lost in the fluid from draining blisters. They can suggest vitamin and mineral nutritional supplements that may be needed, and show how to mix these into the food and drinks of young children. Dietitians can also recommend adjustments in the diet to prevent gastrointestinal problems, such as constipation, diarrhea, or painful elimination.

DEBRA International has developed online booklets about nutrition for patients with epidermolysis bullosa:

Nutrition for Babies with Epidermolysis Bullosa

Nutrition for Epidermolysis Bullosa for Children over 1 years of age

Last updated on 05-01-20

Can the severity of epidermolysis bullosa (EB) vary among affected people in the same family?

Yes. Differences in severity among affected members of the same family have been reported in EB simplex, dominant dystrophic EB, recessive dystrophic EB, junctional EB, and Kindler syndrome. In some cases, disease severity may be influenced by variations in modifier genes (genes that can alter the expression of another gene) in each affected family member.

Last updated on 05-01-20

How might infections in individuals with epidermolysis bullosa be treated?

The chance of contracting a skin infection can be reduced by good nutrition, which builds the body’s defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, a doctor may recommend antibiotic ointments and soaks.

However, even in the presence of good care, it is possible for infection to develop. Signs of infection are redness and heat around an open area of skin, pus or a yellow drainage, excessive crusting on the wound surface, a red line or streak under the skin that spreads away from the blistered area, a wound that does not heal, and/or fever or chills. A doctor may prescribe a specific soaking solution, an antibiotic ointment, or an oral antibiotic to reduce the growth of bacteria. Wounds that are not healing may be treated by a special wound covering or biologically developed skin.

More details about treatment, wound care and infection control can be obtained from the eMedicine and DEBRA web sites.

Last updated on 05-01-20

How might epidermolysis bullosa be treated?

Managing EB requires a multidisciplinary team of health care providers including a dermatologist, EB nurse who specializes in wound care, occupational therapist, nutritionist, and social worker. Various other specialists may be consulted as needed. Management should be individualized for each person depending on their age, severity, symptoms, complications, and priorities.

While there currently is no specific therapy for most forms of epidermolysis bullosa (EB), extensive clinical research regarding potential treatments is ongoing. At this time, management is mostly supportive and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications. Monitoring for complications with laboratory testing and imaging studies is also important, although the frequency of these tests will vary depending on the type of EB and severity in each person. Newborns with EB should be taken care of in a neonatal or pediatric unit that has the expertise, staffing, and resources necessary to manage severe skin erosions and potential complications.

More detailed information about the treatment and management of EB can be viewed here on Medscape Reference's website. You may need to register to view the information, but registration is free.

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: staff@debra.org Url: http://www.debra.org
Name: Genetic Skin Disease Center Stanford Medical Dermatology Clinic Stanford Medicine Outpatient Center
450 Broadway Pavilion B, 4th Floor
Redwood City, CA, 94063, United States
Phone: 650-723-6316 Fax : 650-725-7711 Url: http://dermatology.stanford.edu/contact/
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: ebcenter@cchmc.org Url: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa
Name: DebRA International Am Heumarkt 27/3 1030 Vienna
Austria
Phone: +43 1 876 40 30-0 Fax : +43 1 876 40 30-30 Email: office@debra-international.org Url: http://www.debra-international.org/
Name: Epidermolysis Bullosa Medical Research Foundation EBMRF 2757 Anchor Ave
Los Angeles, CA, 90064,
Phone: +1-310-205-5119 Email: a.pett@bep-la.com Url: https://ebmrf.org/

Connect with other users with Epidermolysis bullosa on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

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

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App