Epidermolysis bullosa simplex
Other Names for this Disease
- Epidermolysis bullosa intraepidermic
- Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysis bullosa
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, generalized
Your QuestionIs it possible for me to have a child? I believe I can get pregnant but with the skin condition and everything I didn't know if I could carry the child or give birth. Also, what are the chances that my child would inherit what I have?
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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.
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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- L A Bolt, G O'Sullivan, D Rajasingham, and A Shennan. A review of the obstetric management of patients with epidermolysis bullosa. Obstetric Medicine. September 2010; 3(3):101-105.
- Ellen G Pfendner, PhD and Anna L Bruckner. Epidermolysis Bullosa Simplex. GeneReviews. September 1, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1369/. Accessed 8/7/2012.
- Epidermolysis bullosa simplex. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed 5/5/2010.
- EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). 2003; http://www.debra.org/modules.php?op=modload&name=News&file=article&sid=18. Accessed 5/5/2010.