Epidermolysis bullosa simplex

How is epidermolysis bullosa simplex inherited?

Epidermolysis bullosa simplex (EBS) is usually inherited in an autosomal dominant pattern, which means one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent, or it may occur for the first time in the affected individual. When an individual affected with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and be affected.

In rare cases, EBS is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when both copies of the gene in each cell have a mutation (one copy inherited from each parent). The parents of an individual with an autosomal recessive condition typically each carry one copy of the mutated gene and are referred to as carriers. Carriers are typically unaffected and do not have signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% risk to not have the condition and not be a carrier.

Affected individuals or family members who are unsure of the inheritance pattern of EBS in their family and are interested in learning more about this should consult with a genetics professional.

Last updated on 05-01-20

What is known about pregnancy and epidermolysis bullosa simplex?

A review of the available medical literature does not yield information about pregnancy and epidermolysis bullosa simplex (EBS) specifically, but there are a few reports in the literature of women with epidermolysis bullosa (EB) becoming pregnant. These reports have shown that women with EB are able to have successful pregnancies. However, because information is scarce, more studies are needed to determine if what is currently known can be applied to other women with EB.

There do not appear to be additional prenatal or postnatal problems for affected women, and the skin itself does not seem to worsen during pregnancy. It has been suggested that renal (kidney) function be closely monitored throughout pregnancy, especially in women with the dystrophic EB type, where exacerbations can lead to significant renal impairment.

The main complications that can arise during pregnancy in women with EB are at the time of delivery. The risks and benefits of the mode of delivery and the choice of anesthesia should be considered. It is thought that vaginal delivery should be the first choice if EB does not significantly affect the genital tract of the affected woman. Women with genital involvement may opt for delivery by C-section. The complications arising as a result of a C-section involve blistering and scarring at the site of excision. If a C-section is required, regional anesthesia should be considered because of the avoidance of airway manipulation.

There are few reported postnatal complications. Affected women may need extra support with regards to caring for the baby, especially, for example, if the mother's hands are affected by blisters or scarring. Breastfeeding is not contraindicated, although higher rates of blister formation around the nipples have been reported.

If a fetus is known to be affected with (or is suspected of having) any form of EB, cesarean delivery may reduce the trauma to the baby's skin during delivery.

Women with any type of EB who are pregnant, or are thinking of becoming pregnant, should speak with their health care provider regarding medical advice.

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
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/

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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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