The outlook for children with epidermolysis bullosa (EB) depends very much on the disease type they inherited. Some forms are mild and even improve with age, while others are so severe that a child is unlikely to live into adulthood.  Fortunately, the milder forms are most common.  No matter which type a child has, symptoms are often noticeable early in life. Because EB is an inherited disease without a cure, it is currently considered a lifelong condition.

Classification  of EB

Epidermolysis bullosa is classified according to the skin layer that is affected by the faulty gene.  These skin layers include the epidermis, or the top layer of the skin; the dermis, which is the layer below the epidermis; and the basement membrane, which lies between the epidermis and the dermis. There are three major types of EB, each affecting one of these layers: epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, and junctional epidermolysis bullosa.

The information below describes the prognosis and life expectancies for each of the major types of EB. Within each type of EB there are variants, so children with certain variants can have a more or less severe case than others with the same type of epidermolysis bullosa.

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is the most common type of EB, accounting for about 70 percent of all cases. In EBS, the blistering occurs in the epidermis layer of the skin.

The outlook for patients with milder forms of EBS is generally good, and in some cases improves with age. A significant difference between EBS and other forms of EB is that the blisters tend to heal without leaving scars, which means that these children are less likely to develop the complications that come with extensive scarring.  However, the blistering during childhood is frustrating and can interfere with activities of daily living.

Certain variants of EBS are more severe, and early infant death is a risk.  In rare cases, a child with EBS may develop muscular dystrophy as they grow.

Dystrophic epidermolysis bullosa

In dystrophic epidermolysis bullosa (DEB), blistering occurs in the upper layer of the dermis, below the basement membrane.  DEB accounts for about 25 percent of all EB cases.

As with EBS, the severity of DEB ranges from mild to severe. Most children with DEB have a normal life expectancy, but, in general, DEB tends to cause more long-term problems than EBS.  Blistering tends to continue into adulthood, leaving behind scarring and can cause disfigurement. Some rare forms of DEB, called generalized DEB, may lead to chronic kidney failure and skin cancer.

People with DEB are particularly prone to aggressive forms of a skin cancer called squamous cell carcinoma (SCC), which can be fatal. Surgery, radiation, and chemotherapy are often not able to keep the cancer from penetrating beneath the skin and spreading to other parts of the body.

Junctional epidermolysis bullosa

Blistering in junctional epidermolysis bullosa (JEB) occurs within the basement membrane, the junction between the epidermis and the dermis. JEB accounts for about 5 percent of EB cases.

The life expectancy of children with JEB is poor, and about half do not survive past the first year of life, and many die before they are 5 years old.  Few children with JEB live into adulthood.

Complications

All forms of blistering may lead to complications. In milder cases, the blistering may be limited to the hands and feet (mild forms of EBS), but over time skin on the palms and soles of hands and feet may thicken. This affects functioning, and blisters are prone to infection.

Significant blistering and scarring increase the risk of infection in open sores, and the likelihood of scarring and deformities. Deformities include fusing of the fingers and toes; contraction of the fingers, elbows, and knees (scarring limits the ability of joints to bend); and limited mobility due to scarring on feet.

Internal blistering in the mouth and the esophagus can affect nutrition, potentially leading to failure to thrive in infancy. Blistering and scarring can also affect vision, and lead to tooth disease.

Management

The outlook, complications, and life expectancy associated with EB vary widely, even within the same types of epidermolysis bullosa. Specialists may take a skin sample to be tested in the laboratory to determine the specific form of EB a child has. Disease management can then be tailored according to a child’s EB type and its expected severity.

In most cases, doctors will want to see the child regularly during the first few years of life, even those with milder forms, to monitor for infection and nutritional status.  Children and adults with DEB should have their skin examined regularly to look for signs of a cancer like SCC.

Note: Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lupus News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Lupus.