Epidermolysis Bullosa

General Overview

Epidermolysis Bullosa (EB) refers to a group of diseases most associated with blistering due to fragile skin. The four main types of EB are: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and Kindler [1]. To care for the symptoms of EB, researchers have identified many therapies, but there is currently no cure. Prevention has also proven evasive as “most types of epidermolysis are inherited”. Ultimately, diagnosis and treatment form the foundation for EB management. 

Symptoms and Diagnosis

Symptoms

There are a range of symptoms associated with EB. The Mayo Clinic lists these symptoms as one, or many, of the following:  

Diagnosis

Diagnosis of EB can occur when a medical professional identifies or is made aware of one or many of the above symptoms. Also, because EB is often genetic, a medical professional may preemptively test for this skin condition. To confirm whether a patient has EB, a medical professional will most often conduct a skin biopsy, genetic testing via a blood sample, or even prenatal testing. Early diagnosis of EB can be especially important for infants who may suffer from extreme pain and potentially fatal blistering, which requires immediate, proper care [2]. In general, appropriately caring for EB symptoms is crucial for patient health and wellbeing. 

Available Treatments

To properly manage EB symptoms, medical professionals emphasize proper skin protection and wound care by changing bandages often and using non-adhesive bandages to avoid further damage. If the skin does become infected (e.g. infected blisters), doctors will prescribe oral or topical antibiotics. 

If effects on the skin or air pathways are more severe, there may be long-term effects, such as motion limitations to affected areas or even scarring of the esophagus. Occupational and physical therapy can help improve range of motion issues, while surgery may be needed in the most severe cases. 

Current treatments detailed above outline EB management, but there is hope for improved outcomes based on current research. Specifically, clinical trials focused on “stem cell transplantation, protein replacements, gene therapies, and various wound care therapies show progress”. Until more treatments are found, EB is best managed through a combination of these existing patient-specific symptom treatments. 

Sources

 

  1. The Dystrophic Epidermolysis Bullosa Research Association of America. (n.d.). About EB. Retrieved December 9, 2020, from https://www.debra.org/about-eb/
  2. Boesen, M. L., Bygum, A., Hertz, J. M., & Zachariassen, G. (2016). Newborn with severe epidermolysis bullosa: to treat or not to treat?. BMJ case reports, 2016, bcr2016214727. https://doi.org/10.1136/bcr-2016-214727