Butterfly Disease : Learn What Happens When Skin Becomes Fragile As Wings

Add as a preferred source on Google

Holding one's hand, a warm hug, or the joy of running barefoot on grass; these small, everyday moments often go unnoticed. But for some, these simple joys come with challenges, all because of a condition called butterfly disease. Read further to know more.

What Is Butterfly Disease?

Epidermolysis bullosa (EB), commonly known as butterfly disease, is a rare genetic disorder that causes the skin to become extraordinarily fragile. So fragile, in fact, that even the slightest touch or friction can result in painful blisters and sores.

Affecting around 1 in 50,000 children, EB doesn't discriminate, it affects both males and females equally and spans across all races and ethnicities.

There are over 30 subtypes of EB, each categorised into four main groups based on which part of the skin is affected. Though they share common symptoms; blisters and skin fragility, each subtype varies in severity and the specific layers of the skin it impacts.

Living with butterfly disease means facing a daily challenge where the skin's fragility requires constant care and attention. It's a reminder of how a simple touch can become a painful reminder of the strength and vulnerability of the human body.

What Causes Butterfly Disease?

Epidermolysis bullosa simplex (EBS), the most common form of butterfly disease, impacts around 70% of individuals with EB. This form of the disease is caused by genetic mutations that affect the outer layer of skin, the epidermis.

Typically inherited in an autosomal dominant pattern, EBS means that a child only needs to inherit one copy of the mutated gene from a parent to develop the condition. In rare cases, it can also be inherited in an autosomal recessive manner, requiring both parents to pass on the defective gene.

Photo Credit: Image is AI-provided

What Are The Symptoms Of Butterfly Disease?

Symptoms often begin at birth or early childhood, with the degree of severity varying. Common signs include easily blistering skin, particularly on the hands and feet, and thickened, scarred areas where blisters repeatedly form.

While some individuals with milder forms may see improvement over time and live relatively normal lives, those with severe forms face much graver challenges. These cases can lead to life-threatening infections and organ damage, with many patients not surviving beyond the age of 30 due to complications. The contrast between the milder and more severe forms highlights the unpredictable nature of the disease.

What Is The Cure For Butterfly Disease

Currently, there is no cure for butterfly disease. However, managing the condition is possible through various treatments aimed at alleviating symptoms and preventing complications.

Wound care is crucial, with methods like draining blisters and using non-adhesive bandages to cover wounds. Medications are available to help relieve the itching and pain caused by blisters, and antibiotics can be prescribed to treat any infections.

In some cases, surgery may be necessary to address complications such as esophageal constriction or hand mobility issues due to scarring.

In a significant development, the U.S. Food and Drug Administration (FDA) approved a new gene therapy gel in 2023 for treating a specific type of butterfly disease-dystrophic epidermolysis bullosa.
This form is caused by mutations in a gene responsible for producing collagen in the skin. The gene therapy, called Vyjuvek, works by delivering functional copies of the collagen gene directly into the patient's cells.

In the same year, Vyjuvek was also adapted into eye drops to help restore vision in a teenager who was legally blind due to eye scarring from the disease.

Additionally, the FDA approved another gel, Filsuvez, for the treatment of wounds in patients aged 6 months and older. This gel, derived from birch bark, is specifically designed for certain subtypes of butterfly disease, marking an important step in addressing the varied manifestations of the condition.

Disclaimer: The information provided in this article is for general informational and educational purposes only and is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or a qualified healthcare provider with any questions you may have regarding a medical condition.