JUNCTIONAL EPIDERMOLYSIS BULLOSA 

Junctional EB is a genetic disorder that is characterized by a lack of a protein vital to maintaining the integrity of the skin. It is extremely rare, and affects a tiny fraction of patients who have EB in general.  To date, there is no cure, and the therapies are supportive.  Recently, there has been some speculation that stem cell transplantation may be of some benefit for people affected by EB, and clinical trials are underway.

People with this disorder can have skin breakdown with slight trauma, friction, and pressure.  This typically results in non-painful blisters, although the remaining wounds can be quite painful.

Unfortunately, blisters can also appear internally in the mouth, esophagus, larynx, lungs, stomach, and urinary tract.  Often times, these necessitate placement of a G-tube for nutrition and/or a tracheostomy for breathing.

There are people who have JEB that have lived (or are living) into adulthood. Our hope is that Ryan will have this chance. Although complications often shorten the lifespan of people with all forms of EB.

Other manifestations usually include dental abnormalities, scarring, malformed nails, corneal abrasions, reflux disease, iron deficiency anemia & anemia of chronic disease, esophageal and urethral strictures, failure to thrive, nutrition problems, scalp blistering/hair loss, infection, breathing problems, and, possibly, early death. 

For a more in depth discussion about JEB, please reference the Dystrophic Epidermolysis Bullosa Association of America (DebRA) website by clicking here