Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Dystrophic Epidermolysis Bullosa

Sometimes called epidermolysis bullosa dystrophica.

What is Dystrophic Epidermolysis Bullosa?

• Epidermolysis bullosa (EB) is a group of rare genetic skin diseases of which Dystrophic EB (DEB) is one of the most severe forms.​
• Considered together, the incidence of all types of dystrophic epidermolysis bullosa is estimated to be 6.5 per million newborns in the United States. The severe autosomal recessive forms of this disorder affect fewer than 1 per million newborns.​
• Imagine waking up in the middle of the night to the sound of a crying child who has painful blisters that have been part of their life since birth. The slightest friction produces agonizing wounds that can cover up to 75% of their frail bodies. You want to hold them and comfort them but you can’t. They are affectionately referred to as “Butterfly Children” because their skin is as fragile as a butterfly’s wing.​

How Do You Get It?

• All genders and ethnic groups appear to be equally affected.
• This is a hereditary genetic disorder triggered by mutations affecting the COL7A1 gene.
• These mutations may have dominant or recessive inheritance; in most cases, they mutation appears unexpectedly.
  • Most families tend to have distinct mutations from one another

What Are The Symptoms?

• People with DEB have blistering of skin and mucosal membranes that line many tracts and structures of the body, such as the mouth, food pipe, etc.
• No matter which type a child has, symptoms are often noticeable early in life. ​
• The severity of DEB ranges from mild to severe. Most children with DEB have a normal life expectancy, but, in general, DEB tends to cause more long-term problems
• Some rare forms of DEB, called generalized DEB, may lead to chronic kidney failure and skin cancer.​​
• Skin fragility and blistering results from a very weak connection between the dermis (inner layer) and the epidermis (outer layer) of the skin. ​
• People with DEB live with constant pain and have a high risk of malnutrition and infections. ​
• Symptoms include:
  • Wounds that heal poorly
  • Fused fingers and toes
  • Skin infections
  • Gastrointestinal problems
  • Squamous cell carcinoma in adults

How Is It Treated?

• There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB). Treatment generally focuses on managing signs and symptoms.
• Management typically focuses on treating blisters and avoiding or treating infections.​
• Wound care usually included treatment of new blisters by lancing and draining. Additionally in most cases, wounds are then dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Due to the increased risk of bacterial resistance, topical ointments and antimicrobial dressings should be reserved for those wounds that are colonized and fail to heal, referred to as “critical colonization.”
  • The first step in epidermolysis bullosa treatment is reducing the number of blisters that form. Patients or their parents can make changes to their lifestyle, such as:​
    • Keep the temperature cool​
    • Choose soft, loose clothing that is easy to take on and off​
    • Avoid walking long distances​
    • Prevent scratching by trimming fingernails and wearing mittens to bed​
    • Avoid hard or rough surfaces by covering them with a soft material, such as sheepskin.​
    • Applying lubricants or moisturizers may help keep the skin moist and reduce friction. However, this should be discussed with a specialist beforehand.​
    • Physical contact can cause blisters, but physical contact should not be avoided, nor should the patient stop taking part in physical activities. Specialists can advise parents and caregivers on ways to safely hold and play with children who have EB and which activities are least likely to result in blistering.​
• Recent treatment advancements and therapies under investigation include but are not limited to: use of biological dressings to treat chronic or recurrent skin ulcers, Bone marrow transplantation, Intra-dermal (in the skin) injection of fibroblast, Protein replacement therapy (intra-dermal injection of type VII collagen), Gene therapy, Revertant mosaicism, Gene correction technologies (ex. CRISPR)
• Rehabilitation therapy Working with a rehabilitation specialist (physical therapist, occupational therapist) can help ease the limitations on motion caused by scarring and contractures.​
• ​Surgery
  • Widening the esophagus. Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgical dilation of the esophagus can relieve this and make it easier for food to travel from the mouth to the stomach. Risks include esophageal perforation.​
  • Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be implanted to deliver food directly to the stomach.​
  • Grafting skin. If scarring has affected the function of the hand, the doctor may suggest a skin graft.​
  • Restoring mobility. Repeated blistering and scarring can cause fusing of the fingers or toes or abnormal bends in the joints (contractures). The doctor may recommend surgery to correct these conditions, particularly if they interfere with normal motion.​

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this illness from debra of America.