Epidermolysis Bullosa

Epidermolysis Bullosa (EB) is a collection of rare skin diseases that affect a small percentage of people, an estimated 0.01% of people. EB can be inherited either dominantly or recessively. In a recessive inheritance, two copies of the gene are necessary to affect the child whereas in dominant inheritance, one copy of the gene is enough to influence the expression of the disorder. 

In healthy epidermal tissue, there is normally a layer of proteins between the epidermis and the dermis (the epidermis is the top layer of the skin while the dermis sits lower in the skin) as well as in the layer themselves. However, in EB patients, these proteins are lacking. There are four main types of EB: simplex, junctional, dystrophic, and kindler syndrome. Each of these types of epidermolysis bullosa is representative of blistering in a different part of the skin. EB Simplex (EBS) blisters in the epidermis; junctional EB (JEB) blisters in between the epidermis and the dermis; dystrophic EB (DEB) blisters in the dermis; kindler syndrome can blister in any layer of the skin. For instance, dystrophic EB results from a mutation in the COL7A1 gene, which removes proteins in between the two skin layers and causes greater friction between the two layers of the skin. This results in the fragility of the skin, including easy tearing of the epidermal layer, blistering, and increased sores.

Each of the four types of epidermolysis bullosa result in slightly different symptoms that can be indicative of the type during diagnosis. EBS is the most common form of this disorder, in which blisters appear on the top layer of the skin and don’t leave a scar after healing. JEB is quite rare, causing blisters in the airway, and is usually very painful. DEB results in blisters in the dermis and can range from being moderate to severe, and pain levels vary as well. Klinder syndrome is the most rare, where blisters form in all layers of the skin.

While EB does not have a cure, it is treatable that allows patients to prevent the formation of blisters, treat painful blisters, and manage pain. To prevent pain after the formation of blisters, patients can avoid hot environments, wear looser clothing, and apply sunscreen and non-adhesive bandages. Doctors may also prescribe daily ointments, pain medications, antibiotic creams, and wound coverings for unhealed sores. Seeing a dermatologist is imperative for proper treatment.

Bibliography:

1. https://www.vyjuvek.com/about-deb/?gad_source=1&gclid=CjwKCAjwz42xBhB9EiwA48pT734oV0iVtvftqNF5Kkn60Z2fbpWmxP_eHPNEL3HCo86Iod29edTPaBoCaxEQAvD_BwE

2. https://www.ebresearch.org/what-is-eb.html?gad_source=1&gclid=CjwKCAjwz42xBhB9EiwA48pT7_s9Ttsslwq5NEic_0FSiNfczH5lZocIvYhwor3Rv26FZzb28lI5-RoCRSYQAvD_BwE

3. https://my.clevelandclinic.org/health/diseases/17792-epidermolysis-bullosa