What is life like with EB?

What is EB?

Epidermolysis bullosa (EB) is a rare genetic skin disorder that causes the skin to become very fragile and blister easily. EB is caused by mutations in genes that produce proteins important for attaching the epidermis to the dermis, resulting in separation and blistering with minor mechanical friction or trauma. There are four major types of EB based on the layer of skin that is affected:

• EB simplex – separation within the epidermis
• Junctional EB – separation at the lamina lucida
• Dystrophic EB – separation beneath the lamina densa
• Kindler syndrome – separation at multiple levels

EB is estimated to affect 20 newborns per 1 million live births in the United States. It is challenging to live with EB due to recurrent blistering, wounds, pain, itching, increased risk of infection, malnutrition, fusion of fingers and toes, and development of squamous cell carcinoma. Currently there is no cure for EB, only supportive treatments to help manage symptoms. Life expectancy is reduced for patients with severe generalized EB.

What are common symptoms of EB?

The main symptom of EB is extremely fragile skin that blisters and tears from minor friction or trauma. Common symptoms include:

• Blisters – fluid-filled sacs that develop on the outer layer of skin
• Open wounds – raw, exposed areas where the blister tops come off
• Scarring – thick, raised scars often develop as blisters and wounds heal
• Itching – intense itching is common, especially with EB simplex
• Pain – varying levels of pain depending on the severity of blistering and wounds
• Increased infection risk – open wounds provide a route for bacteria to enter the body

Other possible symptoms include:

• Fusion of fingers and toes – scarring causes digits to fuse together into a mitten-like or claw-like appearance
• Difficulty eating – blisters and scarring in the esophagus make eating excruciating
• Tooth enamel defects – improper enamel formation caused by mutations in the enamelysin gene
• Vision loss – scarring of the corneas can lead to loss of sight
• Squamous cell carcinomas – increased skin cancer risk later in life
• Osteopenia and osteoporosis – chronic wounds and inflammation impair bone mineralization

Symptoms can range from mild with localized blistering to severe generalized blistering covering the entire body. The severity depends on the type of EB and mode of inheritance.

How does EB affect daily life?

Living with EB presents many challenges and requires extensive daily wound care. People with EB must learn how to protect their skin from damage and promote healing of existing blisters and wounds. Daily life is affected in many ways:

• Wound care – Changing bandages, draining blisters, applying ointments/medications, and monitoring for infections require dedicated time each day.
• Bathing – Must be gentle and in lukewarm water using mild cleansers to avoid damaging skin.
• Clothing – Soft, loose, lightweight clothing or bandages over affected areas help protect skin.
• Exercising – Physical activity is restricted to limit sweating and friction on the skin.
• Diet – Requires high calorie intake and adequate nutrition and hydration to promote wound healing.
• Infections – Topical and oral antibiotics may be needed to treat recurrent skin infections.

People with EB also deal with a great deal of pain on a daily basis which can severely impact quality of life. Pain management is an important aspect of care. Daily activities like walking, dressing, and bathing become extremely painful ordeals. Extremely fragile skin also leads to social isolation out of fear of getting hurt. Finding comfortable sleeping positions can be difficult with widespread blistering and wounds. Individuals with severe EB often require assistive equipment like wheelchairs or become homebound.

What treatments are available for EB?

While there is currently no cure for EB, treatments aim to manage symptoms and prevent complications. Common treatments include:

• Wound care – Using sterile technique to clean, debride, and dress wounds to promote healing and prevent infection.
• Advanced dressings – Special bandages and wound coverings help create a moist environment for healing.
• Pain management – Topical anesthetics, nerve blocks, analgesics, antidepressants, etc.
• Antibiotics – Used liberally to treat infections.
• Physical therapy – Stretching, range of motion exercises, and splints to prevent contractures.
• Itch management – Antihistamines, corticosteroids, phototherapy.
• Surgery – To release contractures or debulk excessive scar tissue.
• Nutritional support – High calorie diet with added protein, vitamins and minerals.

Other specialized treatments that may be used in severe cases include:

• Stem cell transplants to regenerate skin
• Gene therapy to replace defective genes
• Protein replacement therapy
• Intravenous Ig therapy to suppress the immune system

Research is ongoing to find better treatments and hopefully one day a cure for EB. Supportive care from a multidisciplinary team is needed to help EB patients manage their symptoms.

What precautions do people with EB need to take?

To avoid damaging their extremely fragile skin, people with EB must take certain precautions in their daily lives including:

• Wearing protective dressings and padded bandages
• Avoiding trauma, friction, and heat
• Wearing soft, loose, seamless clothing
• Using electric razors or depilatory creams instead of shaving
• Wearing padding in shoes to avoid blisters
• Avoiding contact sports and activities with high injury risk
• Using electric toothbrushes and avoiding dental floss
• Eating soft foods that are easy to swallow
• Using straws and padded utensils
• Checking water temperature before bathing
• Driving instead of walking long distances
• Avoiding adhesives and tapes on skin

For severe cases, further precautions like using a wheelchair, staying homebound, or wearing mittens to prevent self-injury may be necessary. Taking preventive measures helps minimize new blisters and wounds in people with EB. However, injuries are often unavoidable.

What kind of pain is associated with EB?

Living with EB involves dealing with varying levels of pain on a daily basis. Common types of pain include:

• Acute pain – Sudden onset pain when a new blister develops or an existing wound is aggravated. Often described as stinging, burning, throbbing.
• Background pain – Constant mild pain from having an open wound.
• Procedural pain – Pain during procedures like wound care, bandage changes, debridement.
• Chronic pain – Long-term pain that persists for months or years due to severe scarring and contractures.
• Neuropathic pain – Nerve pain related to damage of peripheral nerves from blisters, wounds and scarring.
• Musculoskeletal pain – Joint and muscle pain from skin contractures and reduced mobility.

People with widespread EB often deal with moderate to severe pain on a daily basis which severely diminishes their quality of life. Finding an effective pain management regimen is critical.

What complications can arise with EB?

Some potential complications that can develop over time with EB include:

• Infection – Open blisters and wounds provide an entry point for bacteria; often involves Staph aureus, Pseudomonas, Candida.
• Septicemia – Widespread blood infection.
• Cellulitis – Bacterial skin infection of deeper tissues.
• Osteoporosis – Impaired bone mineralization from malnutrition and chronic inflammation.
• Squamous cell carcinoma – Aggressive skin cancer arising in areas of severe scarring.
• Esophageal strictures – Narrowing of the esophagus caused by scarring.
• Corneal scarring – Can lead to vision impairment and blindness.
• Contractures – Shortening and hardening of skin that limits mobility.
• Malnutrition – Difficulty eating and absorbing nutrients due to oral blistering.
• Amyloidosis – Abnormal protein deposits in organs.

Proper preventive care and prompt treatment of complications is essential for EB patients. Aggressive squamous cell carcinomas and sepsis from severe infection can be fatal.

What is the prognosis for people with EB?

The prognosis for individuals with EB depends on the type and severity of disease. Some key prognostic factors include:

• Type of inheritance – autosomal dominant forms have better prognosis than autosomal recessive.
• Extent of skin involvement – localized vs generalized.
• Presence of extracutaneous complications – eyes, oral cavity, esophagus, etc.
• Degree of scarring and contractures.
• Nutritional status.

In general, the prognosis is as follows:

• EB simplex – Normal life expectancy
• Junctional EB – Low normal life expectancy
• Dystrophic EB – Reduced life expectancy, often only into 30s for severe generalized recessive dystrophic EB
• Kindler syndrome – Normal life expectancy

With proper multidisciplinary supportive care and symptom management, prognosis can improve significantly. Research into curative treatments like gene editing, protein replacement, and stem cell transplants also provides hope.

What is the psychosocial impact of EB?

In addition to physical impairments, living with EB also has significant psychosocial impacts including:

• Social isolation – Fragile skin limits participation in normal social activities.
• Depression – Chronic pain and disability can lead to poor mood, low self-esteem, and depression.
• Anxiety – Fears about getting hurt or developing new blisters causes anxiety.
• Embarrassment – Over skin’s appearance and other visible symptoms.
• Stigma – Feeling uncomfortable in public due to reactions about physical appearance.
• Dependency – Relying on caregivers for wound care, medications, transportation.
• Poor body image – Scarring and contractures negatively alter physical appearance.

Children with EB may suffer from bullying at school. Support groups and mental health counseling can help patients and families cope with emotional impacts of EB.

Summary

Life with EB is extremely challenging due to fragile, blister-prone skin and significant pain. Individuals with EB must learn how to avoid trauma to their skin through preventive wound care and lifestyle modifications. Severe generalized forms of EB substantially reduce quality of life and life expectancy. However, with advances in symptomatic treatments and research into potential cures, the future looks brighter for those living with this devastating genetic disorder.