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Epidermolysis bullosa Causes, Symptoms and Treatment

Epidermolysis bullosa is an inherited genetic disease of autosomal dominant inheritance. It is characterized by skin disorders: formation of bubbles in the different layers of the epidermis.

Definition of epidermolysis bullosa

Epidermolysis bullosa is an inherited pathology, which is characterized by skin damage: bubble formation through the different layers of the epidermis, then erosion thereof.

This pathology develops very early in the child, usually at birth. It can result in local skin disorders, or more general.

Causes of epidermolysis bullosa

Epidermolysis bullosa is a hereditary disease. Its origin is genetic and its development is made 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) or the presence of a single copy of both 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 support.

Who is affected by epidermolysis bullosa?

This cutaneous involvement particularly affects young children, with development usually at birth.

Evolution and possible complications of epidermolysis bullosa

Epidermolysis bullosa is hereditary and dependent on the subtype of the mutated gene of interest. In this sense, the prognosis of the disease is equally dependent on this subtype.

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

Symptoms of epidermolysis bullosa

The disease is characterized by skin disorders. These are translated by:

  • localized or even more generalized skin erosions
  • nail involvement: onychomadesis (falling nails) or dystrophy (nail deformities)
  • the formation of grains on the skin, in rare cases.
  • lack of skin in certain parts 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 importance, are dependent on the subtype of the gene involved in the disease.

Risk factors for epidermolysis bullosa

Since epidermolysis bullosa is a hereditary genetic disease of autosomal dominant inheritance, the risk factor is the presence of the disease in the family context.

The presence of 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 also develops the pathology.

How to treat epidermolysis bullosa?

The management and treatment of epidermolysis bullosa prevents bubbles from forming on the skin. This is to protect the skin, avoid trauma and any risk of infection following an injury.

Air conditioning is a means of prevention in a context of high heat, to limit the drying of the skin.

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