Epidermolysis Bullosa

Can medical cannabis help with the symptoms of Epidermolysis Bullosa? Find out more below. 

What is Epidermolysis Bullosa?

Epidermolysis bullosa (EB) is a group of rare genetic disorders characterized by abnormally fragile skin and prone to blistering and tearing, even with minor trauma or friction. EB affects about 1 in 50,000 people worldwide, and several different types of conditions exist. The severity of the symptoms can vary greatly depending on the type of EB.

What causes Epidermolysis Bullosa?

EB is caused by mutations in genes responsible for making proteins that help anchor the layers of the skin together. The skin becomes weak and easily damaged when these proteins are defective or missing. There are four main types of EB, based on the layer of skin affected:

1. Epidermolysis bullosa simplex: This is the most common type of EB, affecting the top layer of skin (the epidermis). Symptoms are usually mild, and blisters tend to occur in areas of the body that experience friction, such as the hands and feet.
2. Junctional epidermolysis bullosa: This type of EB affects the junction between the epidermis and the layer of skin underneath (the dermis). Symptoms can be moderate to severe, and blisters tend to occur on the skin and mucous membranes.
3. Dystrophic epidermolysis bullosa: This type of EB affects the deeper layer of skin (the dermis). Symptoms are often severe, and blisters tend to occur in areas of the body that experience pressure, such as the feet and hands. This type of EB is also associated with scarring and nail dystrophy.
4. Kindler syndrome: This is a rare type of EB that affects multiple layers of skin. Symptoms can be moderate to severe, and blisters tend to occur on the skin and mucous membranes. This type of EB is also associated with photosensitivity and an increased risk of skin cancer.

Are there Signs & Symptoms?

Epidermolysis bullosa (EB) is a rare genetic condition that affects the skin and mucous membranes, making them extremely fragile and prone to blistering and tearing. Symptoms can range from mild to severe, varying depending on the type of EB. Here are some common signs and symptoms of EB:

1. Blisters: The hallmark symptom of EB is blistering, which can occur on the skin or mucous membranes. Blisters can be small or large and may be filled with clear or bloody fluid.
2. Skin erosions: When blisters rupture, they can leave behind painful open sores or erosions on the skin. These can be slow to heal and can lead to scarring.
3. Skin thickening: Over time, the skin in areas of chronic damage may become thickened or calloused.
4. Nail dystrophy: The nails may be thin, ridged, or missing.
5. Tooth decay: In some types of EB, the enamel on the teeth is weakened, which can lead to tooth decay and loss.
6. Difficulty swallowing: EB can affect the lining of the esophagus, making it difficult to swallow.
7. Anemia: Chronic blood loss from skin erosions can lead to anemia in severe cases.
8. Eye problems: Some types of EB can affect the eyes, causing vision problems or even blindness.
9. Joint contractures: Scar tissue from chronic blistering and skin damage can lead to joint contractures, which limit movement and flexibility.
10. Increased risk of skin cancer: People with EB have an increased risk of developing squamous cell carcinoma, a type of skin cancer.

If you suspect you or a loved one may have EB, you must see a doctor for evaluation and diagnosis. A dermatologist or geneticist can help determine the type of EB and provide appropriate treatment and management options.

Diagnosis & Treatment Options

Diagnosing epidermolysis bullosa (EB) can be complex and requires a multidisciplinary team of healthcare providers, including a dermatologist, geneticist, and other specialists, as needed. The diagnosis of EB is typically based on a combination of clinical symptoms, family history, and genetic testing.

The dermatologist will examine the skin for blistering, erosions, scarring, and nail dystrophy during a physical exam. They may also perform a skin biopsy to examine the skin under a microscope and test for specific proteins absent or abnormal in EB.

Genetic testing can also be used to diagnose EB. This involves analyzing a blood or tissue sample to look for specific genetic mutations that are known to cause EB. Genetic testing can also help determine the type and severity of EB.

In some cases, prenatal testing can be done for families with a known history of EB or those at risk of having a child with the condition. This can involve sampling the amniotic fluid or chorionic villus tissue to test for genetic mutations.

Diagnosing EB can be challenging, especially for milder forms of the condition or when there is no family history of EB.

EB has no cure, and treatment focuses on managing symptoms and preventing complications. This may include wound care, infection prevention, pain management, nutritional support, and physical therapy. In some cases, gene or stem cell therapy may treat severe forms of EB. If you or someone you know is affected by EB, working with a team of healthcare providers who are familiar with the condition and can provide appropriate care and support is essential.

Can medical cannabis help? 

Some evidence suggests that medical marijuana may have therapeutic benefits for certain symptoms associated with epidermolysis bullosa (EB), such as pain and inflammation. However, it’s important to note that the use of medical marijuana for EB has not been extensively studied, and more research is needed to determine its safety and efficacy.

Cannabinoids, the active compounds in marijuana, interact with the body’s endocannabinoid system, which regulates pain, inflammation, and other bodily processes. Some studies have suggested that cannabinoids may have anti-inflammatory and analgesic effects, which could benefit people with EB.

In a small study published in the journal Pediatric Dermatology, researchers found that topical application of a cannabinoid cream reduced pain and itching in children with EB. However, more research is needed to confirm these findings and determine the optimal dosage and method of delivery.

Medical marijuana is illegal in some states or countries, and a healthcare provider should always supervise its use. In addition, medical marijuana can have side effects, such as dizziness, dry mouth, impaired coordination, and can interact with other medications. Therefore, it’s essential to discuss the potential risks and benefits of medical marijuana with a healthcare provider knowledgeable about the use of medical marijuana and the treatment of EB.