Epidermolysis bullosa is an inherited genetic disease of autosomal dominant inheritance. It is characterized by cutaneous damage: formation of bubbles at the level of the different layers of the epidermis.

Epidermolysis bullosa is a hereditary pathology, which is characterized by cutaneous damage: formation of bubbles through the different layers of the epidermis, then erosion of these.

This pathology develops very early in children, usually at birth. It can result in local skin damage, or more general.

Epidermolysis bullosa is an inherited disease. Its origin is therefore genetic and its development occurs as a result of genetic mutations within specific genes (of interest).

Transmission of the disease is autosomal dominant. Either, the gene of interest involved in the disease is located on an autosome (non-sexual chromosome) and the presence of a single copy of the two alleles is sufficient to cause the disease.

Different subtypes of the specific mutated gene exist and cause different consequences. The diagnosis then makes it possible to determine this specificity and to adapt its management.

This skin damage particularly affects young children, with development generally at birth.

Epidermolysis bullosa is inherited and dependent on the subtype of the mutated gene of interest. In this sense, the prognosis of the disease is just as dependent on this subtype.

The life expectancy of the patients is the same as a healthy individual, however depending on the subtype involved, the patient may experience early death.

The disease is characterized by skin damage. These result in:

• localized or even more generalized skin erosions
• nail damage: onychomadesis (nail loss) or dystrophy (nail deformities)
• the formation of grains on the skin, in more rare cases.
• lack of skin in some areas of the body
• plantar keratoderma (thickening of the skin on the palms of the hands)
• the formation of bubbles also in the mouth

The clinical signs and symptoms of the disease, as well as their significance, are dependent on the subtype of the gene involved in the disease.

As epidermolysis bullosa is an inherited genetic disease, of autosomal dominant transmission, the risk factor is therefore the presence of the disease in the family context.

The presence of only one of the two mutated alleles being sufficient to develop the disease, if one of the parents is affected by the disease, there is therefore a very high probability that the child will also develop the pathology.

The management and treatment of epidermolysis bullosa prevents bubbles from forming in the skin. It is then a question of protecting the skin, avoiding trauma and any risk of infection following an injury.

Air conditioning is a means of prevention in a context of high heat, making it possible to limit dryness of the skin.