What is Butterfly Skin: Know all about Epidermolysis Bullosa

Epidermolysis Bullosa, also colloquially known as butterfly skin disease, a rare genetic condition that makes your skin very fragile. While the symptoms usually show up in babies or young children, sometimes, the signs start showing later in life. The inherited condition can affect teenagers as well as adults. Currently, there is no cure for this disease, but there are treatment options that help to relieve the symptoms. Efforts can also be made to prevent complications like an infection.

What is butterfly skin disease?

Butterfly skin disease or epidermolysis bullosa (EB) is an inherited disease of the connective tissues that affects the skin and makes it extremely fragile. “Just by a minor friction or trauma to the skin can lead to blisters and skin tears,” says dermatologist Dr Khushboo Jha.

It makes the skin very delicate and fragile resembling a butterfly’s wings. Apart from the skin, this disease affects the mucous membranes of the body. However, it can become severe, and affect the food pipe and the urinary bladder. Approximately 50 in 1 million live births are diagnosed with butterfly skin disease in the world, according to research published in the Medical Journal, Armed Forces India.

What are the symptoms of butterfly skin disease?

The butterfly skin disease symptoms are quite variable, depending upon the type and its severity. But some of the more common symptoms include:

• Skin blisters just by a little bit of friction and trauma to the skin
• Painful sores on the skin as well as the body’s mucous membranes such as mouth, eyes or throat
• Skin on the hands as well as feet get thickened, also known as hyperkeratosis
• Broken nails of fingers of hands or toes of feet
• Tooth decay or other dental problems
• Difficulty in swallowing food due to esophageal strictures
• Scarring of fingers or toes
• Easy infections in open wounds
• Lower hemoglobin levels owing to anemia
• Extreme lethargy

What causes butterfly skin disease?

“The main cause behind this condition lies in genetic mutations in the genes that work to produce protein which functions to hold the skin layers’ together. “The proteins that play a role in this include keratin, collagen VII, laminin and integrin. The inherited genetic mutation leads to either absence of such proteins or fault in them, and leads to easy blisters’ development in the skin,” explains the expert.

What are the types of butterfly skin disease?

There are four major types of EB:

• Epidermolysis Bullosa Simplex (EBS): It is the mildest form of EB that affects the outermost layer of the skin, and in case of friction, it leads to blisters on hands and feet. It comprises around 70 percent of all butterfly skin disease cases, as per research published in StatPearls.
• Junctional Epidermolysis Bullosa (JEB): It is a moderate to severe type of EB, affecting both skin as well as mucous membranes. In babies, it often takes a severe turn.
• Dystrophic Epidermolysis Bullosa (DEB): This type of EB affects the deeper skin layers, leading to skin scarring and deformities too. “This may even progress to cancer in later life,” says Dr Jha.
• Kindler Syndrome: It is a rare and mixed type of EB that is inclusive of skin blistering, skin sensitisation to sun as well as skin atrophy, which is the thinning of the skin.

What is the life expectancy of people with butterfly skin disease?

The life expectancy of people with this condition depends on the type and severity:

• People suffering from mild types of EB such as Epidermolysis Bullosa Simplex (EBS) have a normal life expectancy when dealt with care.
• Severe forms namely JEB and severe DEB are highly uncomfortable. “JEB Herlitz subtype is very dangerous for the babies, with a survival rate of just upto an year.
• Severe DEB also increases the risk of squamous cell carcinoma (a type of cancer) with a shortened life expectancy of upto 30s and 40s.

How to treat butterfly skin disease?

There is no definitive cure for butterfly skin disease, but there are treatment options:

• A gel with the extract of birch bark can be used to treat Dystrophic Epidermolysis Bullosa and Junctional Epidermolysis Bullosa in people aged 6 months and over, as per the UK’s National Heath Service.
• Since the skin in people with this condition is extremely delicate, wound care is crucial. Non-stick bandages can be helpful in avoiding skin trauma during dressing changes. Antiseptics or sterile saline help clean wounds and prevent infections. Silicone-based dressings or special wound gels may be used for faster healing. Topical pain relievers are sometimes applied before dressing changes to minimise any discomfort.
• Open wounds are prone to bacterial infections, which can become severe. “Topical antibiotics like mupirocin or fusidic acid can be applied to the infected areas. In more serious cases, oral or IV antibiotics may be prescribed by your doctor,” says the expert.
• Due to painful blisters in the mouth or esophagus, eating may become difficult. “Soft, high-calorie diets are good options to support wound healing,” says the expert.
• In cases where oral feeding is too painful or unsafe, feeding tubes (gastrostomy or nasogastric) may be inserted.
• Supplements, especially iron, zinc, and vitamins A, C, and E, can help with skin regeneration and boosting immunity.

Butterfly skin disease is genetic, so it cannot be prevented after birth. There is also no cure, but there are treatments that can help to manage symptoms and prevent infections.