What is Epidermolysis Bullosa (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.
Those born with Epidermolysis Bullosa are often called “Butterfly Children” because as the analogy goes, their skin is as fragile as the wings of a butterfly. While many who live with milder forms of EB can lead long and productive lives, the list of manifestations and secondary complications in the more severe forms is lengthy and requires multiple interventions from a range of medical specialists. Those forms of EB result in disfigurement, disability, and in some cases early death.Epidermolysis Bullosa can result from a genetic mutation in one of 18 genes.These mutations, or errors in the genetic code, do not allow the body to either produce an essential protein or produce a working form of the protein thus resulting in extremely fragile skin. EB can also be an autoimmune disease in which the body produces antibodies to the structural components of the skin. The severity of EB is generally dependent upon many factors including type, subtype, and inheritance pattern. EB has been categorized as encompassing (Simplex, Junctional, Dystrophic, Kindler Syndrome, Aquisita) and 31 subtypes, therefore it is commonly referred to as a group of disorders. Other manifestations of EB include: anemia, cardiomyopathy, syndactyly (fusion of the fingers and toes), renal insufficiency, dysphagia (difficulty swallowing), malnourishment, cancer, constipation, osteoporosis, muscular dystrophy, and pyloric atresia.
Today, three publically traded companies are planning EB clinical research trials, and academic research in the areas of cell, protein replacement, and gene therapy have advanced and are showing great progress. Each day, we are getting closer to finding a treatment and a cure. Until a cure is found, debra of America is dedicated to its mission of providing daily support to those who suffer from Epidermolysis Bullosa.
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.