Bullous epidermolysis is a rare genetic disorder also called "butterfly syndrome". The skin of those who suffers it is as fragile as the wings of a butterfly. Just a minor clutch to cause the appearance of bubbles and injuries.

The disease has three forms, ranging from the mild to the lethal:

• simplex;
• dystrophic;
• junctional.

In the case of joint juncture, the disease also affects the mouth and throat. This makes it difficult to eat and swallow. In some cases, the disease also affects internal mucous membranes and causes almost unbearable pain. Often injuries are also difficult to heal.

The disease usually occurs at birth or in the next few months. Localized shapes can, however, emerge even in late childhood or early adulthood. In Italy, bullous epidermolysis affects about 1 child every 82,000 births. The average is lower than the world average, which is around 1 child per 17,000 births. The total number of people in the world is about 500,000.

Bullous epidermolysis is inherited and can be autosomal dominant or recessive, depending on the subtype. If you are present in the family history of one of the couple's two members, you should contact specialists. In the case of recessive inheritance, in fact, both parents are healthy carriers and do not manifest the illness in any way. Nevertheless, the fetus has 1 out of 4 possibilities to manifest it.

The simplex form is the least serious and most common. It affects about 50% of affected subjects and affects almost exclusively hands and feet. In some cases, continuous scarring results in fusion of the fingers, reducing its functionality. It is common for patients to suffer from anemia, or who incur tumors and nephrologic problems. Junctional bumpy epidermolysis is the rarest (1% of cases) and is also the most severe. In many cases it is lethal since childhood.

Compared with other genetic diseases, bullous epidermolysis is easy to diagnose. There are no effective treatments, though. You can only avoid the appearance of bubbles as much as possible, protecting the skin from possible trauma. It is also important to prevent possible infections from wounds. Those who suffer from the most serious forms must undergo continuous monitoring, but there is nothing else to do.

Source: observatoriomalattierare.it