Epidermolysis bullosa is a rare genetic condition that makes skin so fragile that it can tear or blister at the slightest touch. Children born with it are often called “Butterfly Children” because their skin seems as fragile as a butterfly wing.
Children born with epidermolysis bullosa are known as "butterfly babies" because their skin is so fragile, even a hug can cause it to blister or tear. This is their heartbreaking reality.
The disease appears at birth or during the first few years of life, and lasts a lifetime. Prognosis is variable, but tends to be serious. Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications.
Mild cases of EB aren't fatal. People with severe cases of EB have a life expectancy that ranges from infancy to 30 years of age.
There's currently no cure for EB, so treatment aims to relieve symptoms and prevent complications developing, such as infection. A team of medical specialists will help you decide what treatment is best for your child and offer advice about living with the condition.
Blistering begins at birth or shortly afterwards. Much of the skin is covered in blisters and there is extensive internal blistering. Children can develop deformities caused by the recurrent scarring of the fingers and toes (pseudosyndactyly) and the hands and arms become fixed in stiff positions (contractures).
Those who have a mild form of EB may notice improvement with age. More serious forms of EB may result in a shortened lifespan. While there is no cure for EB, there are several research groups around the world that are working on new treatments for EB.
There's currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms. Treatment also aims to: avoid skin damage.
Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don't develop symptoms until they're teens or young adults. Epidermolysis bullosa has no cure, but mild forms may improve with age.
Autosomal Dominant Inheritance
The abnormal gene is able to disrupt the function of the normal gene, causing disease. Most forms of EB Simplex and Dominant Dystrophic EB are autosomal dominant. A person with a dominant form of EB has a 50% chance of passing the disease onto their children each pregnancy.
There are as many as 30,000 EB patients in the United States, and until now there's been no treatment for the disorder, Hund said. But a new gene therapy produced by the Pittsburgh firm Krystal Biotech has shown in phase 2 and 3 trials that it can heal wounds that have been open for years in some butterfly children.
Parents described the most common emotions associated with their child's EB to include frustration, embarrassment, worry, anxiousness and depression12,23–25. Many parents expressed difficulties in accepting their child's condition and the daily burden that the disease demanded.
ADHD Rainbow Butterfly Symbol
The butterfly symbol pictured below resonated with many, symbolizing how ADHD minds typically flit from one thing to the next.
The butterfly is present to celebrate the life of the patient's lost sibling and to bring awareness of the loss for staff and other families.
A discreet Butterfly symbol will be placed next to the patient's name. This tells all staff that the patient has requested Butterfly Scheme care. There are also systems in place to. support the patient if they are. taken to other parts of the hospital.
The treatment, called Vyjuvek, was developed by the Pittsburgh startup Krystal Biotech and is approved for treating anyone older than six months of age with this specific form of epidermolysis bullosa, a condition that until now has had few treatment options and affects only about 3,000 people in the US, according to ...
Gene therapy, including a gel applied to wounds of people with dystrophic epidermolysis bullosa. Bone marrow (stem cell) transplantation. Protein replacement therapies. Other cell-based therapies.
Epidermolysis bullosa (EB) is a rare genetic disease that causes the skin to become as fragile as butterflies' wings. The minimum touch can destroy the skin and cause blisters.
Currently, there is no cure for EB. Many types are well controlled and many patients with EB lead normal lives. Unfortunately, there are several rare types that can cause significant pain and more severe disease.
In general, patients with EB experience intense and unpleasant pain on the surface of the skin; the hands and feet are most commonly affected. The subtypes, recessive dystrophic EB and junctional EB reported pain qualities pathognomonic of neuropathic pain.
Because patients with epidermolysis bullosa are deficient in laminin-332, the transduction of the stimulus is unsuppressed. Their sensory neurons are excited much more strongly, and thus they react much more sensitively to mechanical stimuli,” Professor Lewin explained.
Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent .
It is estimated that there are around 1000 people in Australia who have some form of EB and over 500,000 worldwide.
Junctional Herlitz EB is due to mutations in any of the three Laminin 332 chains and can be a very severe form of EB. Death often occurs during infancy due to overwhelming infection (sepsis), malnutrition, dehydration, electrolyte imbalance or obstructive airway complications.