What Is 'Butterfly Disease'? The Rare Skin Disorder That Makes Skin As Fragile As Wings

Epidermolysis Bullosa, also known as "butterfly disease," is a rare genetic condition. This congenital disease lets the skin be as fragile as those of butterfly wings. Affected patients can develop painful blisters and sores easily, proving life very difficult to live for all their daily activities. Though its prevalence is extremely rare, estimated to occur in 1 of each 50,000, the impact of this disease on children born with severe forms of the disease is immense.

Although the problems associated with butterfly disease are tremendous, there is a promise of improvement with advancements in gene therapy and other treatments. Research and innovations such as topical gene therapy are bringing new hope for the management of symptoms and possibly curative solutions in the future.

This article delves into the complexities of butterfly disease, including its causes, symptoms, and current developments in treatments, along with essential care tips for managing the condition.

What is Butterfly Disease?

Butterfly disease is a collection of very rare genetic conditions that cause severe skin fragility. Even the slightest pressure or friction from clothing, touch, or minor injuries can cause the skin to tear or blister. The blisters can occur anywhere on the body, including internally, such as in the mouth, gastrointestinal tract, and eyes.

Children with EB are sometimes referred to as "butterfly children" because their skin is fragile, just like the wings of a butterfly. In less severe cases, blisters may primarily occur on the hands, knees, or elbows. In the most severe cases, blistering can be all over the body, leading to scarring, deformities, and even life-threatening complications.

What causes Epidermolysis Bullosa?

EB, butterfly disease, originates from mutations that damage the structure of the skin. These mutations result in broken bonds between layers of the skin and cause separation at stress points. There are 30 different subtypes, but they all fit into one of four larger categories based on where the lesions affect the skin.

The most common subtype, epidermolysis bullosa simplex (EBS), accounts for about 70% of cases. It is typically inherited in an autosomal dominant pattern, meaning a single defective gene copy from one parent can cause the condition. Other, less common forms may require two defective gene copies—one from each parent—making them autosomal recessive.

Symptoms of Butterfly Disease

The symptoms of butterfly disease vary according to subtype and severity. Generally, all kinds of EB share the hallmark feature of fragile skin that blisters and tears easily.

• Blisters on hands, feet, and other pressure-prone areas.
• Scarring and thickened skin in areas prone to friction.
• Blisters can be found internally within the mouth and esophagus, impairing the ability to eat and digest food.

There are severe complications with the more severe forms of EB where blisters form in areas of the eyes, airway, and gastrointestinal tract. Such may lead to conditions such as:

Infections: Open sores are easily susceptible to bacterial infections that may eventually result in deadly sepsis.

Malnutrition and dehydration: Inability to eat due to blisters in the mouth and esophagus.

Risk of cancer: Squamous cell carcinoma is a skin cancer with an increased risk of development.

Life expectancy varies according to the severity. The milder forms of the disease tend to improve with age, while the severe types usually result in early death. Most patients die before reaching the age of 30 years.

Also Read: Smurf Syndrome: Rare Condition That Turns Your Skin Blue-Gray Permanently

Is there a Cure?

Currently, there is no cure for butterfly disease; however, the advancements recently done can offer a much better management system along with improved quality of life.

Gene Therapy

In 2023, the FDA approved a revolutionary gene therapy gel called Vyjuvek. This gel targets dystrophic epidermolysis bullosa, a severe subtype caused by mutations in the gene responsible for producing a crucial type of collagen in the skin. Vyjuvek helps heal wounds and prevent further damage by delivering functional copies of the gene directly to affected cells.

• Another remarkable advancement is in developing this gene therapy into an eye drop for vision restoration in EB-related eye scarring.

Other Treatments Involve

• Filsuvez Gel: It is an FDA-approved birch bark gel used to facilitate wound healing in specific subtypes of EB.
• Supportive Care: Pain management, blister drainage, and nonadhesive bandages all contribute to relieving symptoms.

For severe patients, complications may necessitate surgery, including correction of esophageal strictures or deformity due to scar tissue.

Essential Tips for At-Home Care

Caring for butterfly disease needs a lot of attention to prevent complications and ease pain.

• Non-adhesive dressings on the wound with some loose gauze on it.
• Wear loose-fitting, tagless clothes to reduce friction.
• Speak with your doctor about the proper methods to drain blisters safely, to avoid infections.
• Steer clear of heat and moisture; make the environment as cool as possible and bath at room temperature.
• Many patients have deficiencies in iron, selenium, and vitamin D. Consult a nutritionist for suggestions of foods that have these nutrients in them to boost overall health.
• For any of these signs to be red, warm, and pus-filled, seek medical attention as soon as possible if infection is suspected.

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa. New England Journal of Medicine. 2022