April's Monthly Topic: EB

Wednesday, April 1, 2026 Title April’s Monthly Topic: Epidermolysis Bullosa Resources used: National Institute of Arthritis and Musculoskeletal and Skin Disease (NIH)-https://www.niams.nih.gov/health-topics/epidermolysis-bullosa Author Disclaimer: I am not a professional of any kind. I am strongly against self-diagnosis and encourage my audience to seek the professional advice of their trusted medical professional and any other trusted professional, depending on the topic at hand. The Abler Blog ONLY PROVIDES LIMITED GENERAL INFORMATION and ALWAYS CITES WHERE THEY FIND THEIR RESOURCES AND OR INFORMATION. Jessica Niziolek, Founder of The Abler Blog and online community. What Is Epidermolysis Bullosa (EB)? This is a condition where the skin becomes so fragile that it can tear, blister, and cause sores so severe that, in severe cases, these sores can develop inside the person as well. In areas like the airway, stomach, and bladder. What Causes EB? Changes (mutations) to genes that you inherit from your parents cause most forms of epidermolysis bullosa. Genes carry information that determines which features are passed to you from your parents. We have two copies of most of our genes—one from each parent. People with the disease have one or more genes that carry the incorrect instructions to make certain proteins in the skin. There are two types of inheritance patterns: Dominant, which means you inherit one normal copy and one copy of the gene that causes epidermolysis bullosa. The abnormal copy of the gene is stronger or “dominant” over the normal copy of the gene, causing the disease. A person with a dominant mutation has a 50% chance (1 in 2) of passing on the disorder to each of his or her children. Recessive, which means that your parents do not have the disease, but both parents have an abnormal gene that causes epidermolysis bullosa. When both parents carry the recessive genes, there is a 25% chance (1 out of 4) per pregnancy of having a child with the disease. There is a 50% chance (2 out of 4) per pregnancy of having a child who inherits one abnormal recessive gene, making them a carrier.  It is important to note that researchers are aware that EB is an autoimmune disease. They do not know why the body attacks Is this condition inherited? The short answer is yes, this condition of EB is inherited from a changed gene (mutated gene) from the parents. This gene affects how your body makes the proteins that can keep your skin attached and strong. Blistering and tearing of the skin is the most common symptom of EB. When does this condition begin? This condition usually begins at birth to infancy. The cases of EB can range from mild to severe. Who’s at risk of getting this condition? This condition can affect anyone, of any ethnic or racial background, male and female equally. Is There a Cure For EB? There is currently no cure for EB. But doctors and scientists are working tirelessly to find a cure for EB. Is There More Than One Type Of EB? Yes, there are four major types of EB. - Epidermolysis bullosa simplex: Blisters occur in the lower part of the epidermis. Junctional epidermolysis bullosa: Blisters occur in the top portion of the basement membrane, due to problems in attachment between the epidermis and basement membrane. Dystrophic epidermolysis bullosa: Blisters occur in the upper dermis due to problems in attachment between the basement membrane and the upper dermis. Kindler syndrome: Blisters happen in multiple layers of the skin, including the basement membrane. ***There is also a 5th type of EB called epidermolysis bullosa acquisita, which is a rare autoimmune disorder that causes the body’s immune system to attack a certain type of collagen in the person’s skin. Sometimes, it happens with another disease, such as inflammatory bowel disease. Very rarely, a medication causes the disease. Unlike the other types of epidermolysis bullosa, the symptoms may begin at any age, but many people develop symptoms during middle age. Scientists have discovered over thirty subtypes of EB. That falls under the four major types of EB. With this discovery, research can be done toward finding treatments for EB. Symptoms Of The Four Major Types Of EB Epidermolysis bullosa simplex is the most common form of the disease. People with the mild subtype develop blisters on the palms and soles. In other, more severe subtypes, the blisters occur over the entire body. Depending on the subtype of the disease, other symptoms may include: Thickened skin on the palms of the hands and soles of the feet. Rough, thickened, or absent fingernails or toenails. Blisters inside the mouth. Changes in the pigmentation (color) of the skin. Junctional epidermolysis bullosa is usually severe. People with the most serious form may have open sores on the face, trunk, and legs that can become infected or cause severe dehydration from fluid loss. Blisters can also develop in the mouth, esophagus, upper airway, stomach, intestines, urinary system, and genitals. Other symptoms and problems related to the disease may include: Rough, thickened, or absent fingernails and toenails. Blisters on the scalp or scarring hair loss. Malnutrition resulting from poor intake of calories and vitamins due to blistering in the mouth and gastrointestinal tract. Anemia. Slow overall growth. Poorly formed tooth enamel. Dystrophic epidermolysis bullosa has slightly different symptoms, depending upon whether the disease is dominant or recessive; however, most people have the recessive subtype. Recessive subtype: Symptoms tend to be moderate to severe and may include: Blisters usually appear over large areas of the body; in some milder cases of the disease, they may appear only on the feet, elbows, and knees. Loss of nails. Skin scarring, which may cause the skin to be thick or thin. Milia, which are small white bumps on the skin. Itching. Anemia. Slow overall growth. ***The more severe subtypes of EB can result in more serious issues. Such as eye damage, tooth loss, and skin cancer, which spreads faster when the person has EB.*** ***Researchers know that EB is an autoimmune disease, but they don’t know the cause or why the body attacks the skin’s collagen. To read more on how this condition/disease gets diagnosed and then treated, please go to the link listed in the beginning and hit the tab that reads: Diagnose and treatments. There is also a documentary on this condition entitled, Matter of Time, With Eddie Vedder (Pearl Jam lead singer) and his wife, Jill Vedder's mission to find a cure for EB. Streaming on Netflix now.