How is eb inherited

Never disregard professional medical advice or delay in seeking it because of something you have read on this website. Envelope icon Subscribe to our newsletter Get regular updates to your inbox. Your Email. Causes of Epidermolysis Bullosa. Print This Article. We use cookies to enhance your experience on our website.

Privacy Policy Accept. You can also learn more about genetic consultations from Genetics Home Reference. References References. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. January-February, ; 30 1 Epidemiology, pathogenesis, classification, and clinical features of epidermolysis bullosa.

Dystrophic Epidermolysis Bullosa. Cassandra L. Jumana Al-Aama. Sporadic Kindler Syndrome with a novel mutation. An Bras Dermatol. November-December, ; 88 6 Suppl 1 Mary Judge, R.

Phillips, B. Lake, and J. Junctional epidermolysis bullosa in two brothers: survival and intrafamilial variation. When two abnormal genes are needed to produce disease, that disease is autosomal recessive. A person can have one abnormal copy of the gene for the disease be completely healthy. This individual is called a carrier. If an individual that carries one recessive gene for the disease has a child with another carrier for the same disease, their child may be afflicted.

This information is most useful to parents who have had one child with a recessive form of EB in determining their risk of having another affected child in the future. On This Page. Stanford EB Clinic. What is Epidermolysis Bullosa EB? What are some symptoms of EB?

How common is EB? How is EB treated? What are the different types of EB? EB Simplex. Junctional EB. Dystrophic EB. How is EB inherited? Autosomal Dominant Inheritance.

Autosomal Recessive Inheritance. It is painfully difficult for a child with recessive Dystrophic EB to ingest food due to the internal blistering that occurs in the mouth, esophagus, and gastrointestinal tract.

Kindler syndrome is an extremely rare form of EB that has features of skin blistering and sensitivity to the sun. All of the genes that cause EB are autosomal, meaning the genes are not carried on the sex-determining X and Y chromosomes. Chromosomes are two sets of instruction manuals that contain information on how to make everything in your body.

One instruction manual is from your mother and the other is from your father. Genes on chromosomes are like pages or sections of the instruction manual that focus on a specific part of the body, like eye color.

In individuals with EB, some of the pages genes of one or both instruction manuals chromosomes are missing or incorrect. These pages should contain the instructions to make the proteins that hold the skin together. Faulty instructions lead to missing or abnormal proteins, and the skin is not as strong as it should be.

One or two sets of bad instructions produce different forms of EB. The abnormal gene is able to disrupt the function of the normal gene. A person may have a dominant form of EB and not have an affected parent. In these cases, a new mutation in the egg or sperm of one parent occurred. A carrier has one abnormal copy of the gene for the disease and is completely healthy. If a carrier has a child with another carrier for the same disease, their child may be affected.

When two carriers for a disease produce a child, there is a:. This information is most useful to parents who have had one child with a recessive form of EB in determining their risk of having another affected child in the future.