Genetics .....[EBS]

Epidermolysis Bullosa Simplex [EBS]

We already discussed the basic and the symptoms for Epidermolysis Bullosa Simplex [EBS]. Now let’s take a look in details on the genetic patterns and possible mutational analysis.

Researchers have identified 4 major types of EBS. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same genes.

The mildest form of EBS, known as the Weber-Cockayne type — is characterized by skin blistering mainly in hands and feet which begins anytime between childhood and adulthood. Later in life, skin on the palms and soles of the feet may thicken and harden (hyperkeratosis).

In the Koebner type — blisters appear at birth or in early infancy and are more widespread.

Another form of the disorder — epidermolysis bullosa simplex with mottled pigmentation, is characterized by patches of darker skin on the trunk, arms and legs which fade in adulthood — this form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles and abnormal nail growth.

The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth and in clusters. Blisters are present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles.

Researchers have identified another skin condition characteristic of epidermolysis bullosa simplex — Ogna type — it is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. Researchers are still not sure whether Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa.