What does epidermolysis bullosa look like?

Dystrophic epidermolysis bullosa generally becomes apparent at birth or during early childhood. More severe forms of dystrophic epidermolysis bullosa can lead to rough, thickened skin, scarring, and disfigurement of the hands and feet.

What is the most severe form of EB?

Recessive Dystrophic EB is the most severe, chronic type of EB. Blistering begins at birth or shortly afterwards. Much of the skin is covered in blisters and there is extensive internal blistering.

What is recessive dystrophic EB?

Recessive Dystrophic Epidermolysis Bullosa is an incurable, often fatal skin blistering condition caused by a lack of collagen protein in the skin. This makes the skin incredibly fragile, leading to blistering or skin loss at the slightest friction or knock.

What is a butterfly child?

Epidermolysis bullosa is a rare genetic condition that makes skin so fragile that it can tear or blister at the slightest touch. Children born with it are often called “Butterfly Children” because their skin seems as fragile as a butterfly wing. Mild forms may get better with time.

How painful is EB?

In general, patients with EB experience intense and unpleasant pain on the surface of the skin; the hands and feet are most commonly affected. The subtypes, recessive dystrophic EB and junctional EB reported pain qualities pathognomonic of neuropathic pain.

Does EB go away?

There’s currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms. Treatment also aims to: avoid skin damage. improve quality of life.

Does EB affect teeth?

In some forms of EB, tooth damage is hard to avoid, since genetic enamel defects exist. But even with forms of EB where there are no enamel defects, blister formation or difficulty in opening the mouth can often lead to oral hygiene difficulties, and ultimately tooth decay.

How many people have recessive dystrophic epidermolysis bullosa?

Frequency. Considered together, the prevalence of recessive and dominant dystrophic epidermolysis bullosa is estimated to be 3.3 per million people.

Is EB fatal?

EB can vary from minor to fatal. The minor forms causes blistering of the skin. The fatal forms affect other organs. Most types of this condition start at birth or soon after.

How does EB cause death?

Junctional Herlitz EB is due to mutations in any of the three Laminin 332 chains and can be a very severe form of EB. Death often occurs during infancy due to overwhelming infection (sepsis), malnutrition, dehydration, electrolyte imbalance or obstructive airway complications.