Epidermolysis Bullosa (EB) is a rare genetic disorder that affects the skin and mucous membranes, causing them to blister and tear easily. It is caused by a defect in the genes that control protein production that anchors the skin layers together. There are several types of EB, each with varying degrees of severity and different genetic mutations.
Epidermolysis Bullosa Simplex- This is the most common type of EB caused by mutations in genes that encode keratin proteins. It causes blisters to develop on the skin, which often occurs on the hands and feet.
Junctional Epidermolysis Bullosa- This type of EB is caused by gene mutations that encode laminin proteins. JEB is more severe than EBS and can cause blistering and erosion of the skin and mucous membranes and respiratory and digestive complications.
Dystrophic Epidermolysis Bullosa – A gene mutation that encodes collagen VII proteins causes DEB. The condition may lead to severe skin blistering, nail deformities, and blisters inside the mouth or throat.
Kindler Syndrome- This is a rare type of EB caused by mutations in the FERMT1 gene. Kindler Syndrome causes blistering, sensitivity to sunlight, and an increased risk of skin cancer.
The number of people developing EB in South Africa is rising. The symptoms of EB can range from mild blistering to life-threatening complications such as infections and systemic problems.
Some of the symptoms include:
Genetic mutation is the primary cause of this skin problem; however, the specific mutations causing EB vary depending on the type. For example:
The primary risk factor for EB is having a family history of the condition, as it is an inherited disorder. However, in some cases, EB may occur spontaneously due to new mutations not inherited from parents.
Other risk factors for EB may include:
Your doctor may need to collect clinical, genetic, and family history tests to diagnose EB. Complications associated with EB can be severe and potentially life-threatening. Here are some of the common complications associated with EB and ways to prevent them:
All types of EB can cause significant pain, discomfort, and disability, and there is currently no cure. Treatment focuses on managing symptoms, preventing complications, and improving quality of life. Treatment options include wound care, pain management, nutritional support, and surgical interventions. Individuals with EB require ongoing care and support from a team of healthcare professionals specialising in the condition.