What is EB?

Debra Pakistan / What is EB?

Epidermolysis bullosa

“Epidermolysis bullosa (EB) is the most challenging condition I have come across in all my years of medical practice.”

(Dr. Rosemarie Watson MD, Director National Epidermolysis Bullosa Service, St James’s Hospital and Our Lady’s Children’s Hospital, Crumlin, Ireland)

About EB

Epidermolysis Bullosa is a rare skin blistering genetic disorder, delineates by highly fragile skin and repetitive blisters formation resulting from minor mechanical friction or trauma. Patients with EB, skin lacks the protein which is required to hold the layers of skin together and any action (like rubbing or pressure) will create painful wounds, which are compared to the third degree burns. EB kids are knowns as “Butterfly Children” around the world because of their skin is as fragile as a butterfly’s wings.

What is EB?

Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, which is characterised by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma.

The skin has two layers; the outer layer is called the epidermis and the inner layer the dermis. Normally, there are ‘anchors’ between the two layers that prevent them from moving independently from one another. In people with EB, the two skin layers lack the anchors that hold them together, and any action that creates friction between the layers (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores to third-degree burns. Over the past 15-20 years, 13 major genes responsible for the majority of cases of EB have been identified. The genetic errors in EB result in defects in the proteins that adhere the epidermis to the dermis. In many countries, Butterfly Children is a term often used to describe younger patients because their skin is as fragile as a butterfly’s wings. Sometimes, children with the condition are also described as Cotton Wool Babies. And in South America, Crystal Skin Children is the term used.

Clinical Symptoms

EB skin is never able to ever heal properly with normal strength: chronic open wounds and extensive scarring develop with attendant pain. Each time EB skin is damaged, the damage is irreversible, and disfigurement and disability accrue over a lifetime. Some severe forms of EB are fatal in infancy; others in older children and young adults.

The chronic wounds of EB can result in decreased mobility owing to pain and the extensive scar tissue that forms. Scarring in turn results in constriction of the mouth or throat, or ‘mitten’ deformities of the hands and feet: benefits of surgery to release fingers, for example, are of limited duration as scar tissue starts to form again immediately.

For some types of EB, the internal mucosa is also affected: nutrition can be compromised, resulting in osteoporosis, and general failure to thrive: quite young children can depend on gastrostomies or require highly specialised diets.

A type of skin cancer, squamous cell carcinoma (SCC), is a major cause of death for recessive dystrophic (RDEB) teenagers and young adults: surgery, radio- or chemotherapy are not effective. It is particularly aggressive and invasive in EB patients and the need is to prevent development or slow the spread.