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Epidermolysis bullosa, or EB, is a group of blistering skin conditions.  For people with EB, the skin is so fragile that even minor rubbing may cause blistering.  In severe EB, blisters are not confined to the outer skin.  They may develop inside the body, in such places as the linings of the mouth, esophagus, stomach, intestines, upper airways, bladder, and the genitals.

It is estimated that 2 to 4 out of every 100,000 people (or up to 12,000 people in the U.S.) have some form of EB.  It occurs in all racial and ethnic groups and affects males and females equally. Most people with EB have inherited the condition through faulty genes they receive from one or both parents.  More than 10 genes are known to underlie the different forms of EB.

The skin has an outer layer called the epidermis and an underlying layer called the dermis. The place where the two layers meet is called the basement membrane zone. (See the diagram of the skin, below) The main forms of EB are EB Simplex, Junctional EB, and Dystrophic EB. EB Simplex occurs in the outer layer of skin; Junctional EB and Dystrophic EB occur in the basement membrane zone. These major types of EB also have many subtypes.

There are both dominant and recessive forms of Dystrophic EB.  Fallyn has recessive dystrophic EB (RDEB). In this condition, the filaments that anchor the epidermis to the underlying dermis are either absent or do not function.  This is due to defects in the gene for type VII collagen, a fibrous protein that is the main component of the anchoring filaments.

Dystrophic EB (DEB)—The dominant and recessive inherited forms of DEB have slightly different symptoms. In some dominant and mild recessive forms, blisters may appear only on the hands, feet, elbows, and knees; nails usually are shaped differently; milia may appear on the skin of the trunk and limbs; and there may be involvement of the soft tissues, especially the esophagus. The more severe recessive form is characterized by blisters over large body surfaces, loss of nails or rough or thick nails, atrophic scarring, milia, itching, anemia, and growth retardation. Severe forms of recessive DEB also may lead to severe eye inflammation with erosion of the cornea (clear covering over the front of the eye), early loss of teeth due to tooth decay, and blistering and scarring inside the mouth and gastrointestinal tract. In most people with this form of EB, some or all the fingers or toes may fuse (pseudosyndactyly). Also, individuals with recessive DEB have a high risk of developing a form of skin cancer called squamous cell carcinoma. It primarily occurs on the hands and feet. The cancer may begin as early as the teenage years. It tends to grow and spread faster in people with EB than in those without the disease.

Surgical treatment may be necessary in some forms of EB. Individuals who are not getting proper nutrition may need a feeding tube that permits delivery of food directly to the stomach. Also, patients whose fingers or toes are fused together may require surgery to release them.

 

 

 

 

The above is adapted from the National Institutes' of Health publication, Questions & Answers about Epidermolysis Bullosa.  For more information, please see here.