A Quick Overview of Epidermolysis Bullosa

Epidermolysis bullosa is a rare disease seen in children and young adults, which can cause fragile and blistering skin on different parts of the body. Usually, the blisters might appear as if it was caused by a minor injury, exposure to heat, scratching or rubbing. However, they can lead to some serious complications if not diagnosed and treated in time. In some severe cases, the blisters might also occur inside the body of the child, such as in the lining of the mouth or stomach. This can be a very serious condition, which would require surgery to treat the disorder.

Symptoms

Most kids show the signs of epidermolysis bullosa in their early childhood days. In newborns, the blisters might not appear until they start to walk or engage in new physical activities that cause strong friction on the feet. Sometimes, the symptoms might not be apparent at all until their teenage years or early adulthood days. In any case, the most common signs of epidermolysis bullosa include:

  • Blisters on the hands and feet
  • Fragile skin
  • Thin nails
  • Sores inside the mouth
  • Thickened skin on the palms and/or sole of the feet
  • Scarring of the scalp and hair loss
  • Atrophic scars
  • Small pimples or white bumps on the skin
  • Dental problems
  • Itchiness and pain
  • Difficulty in swallowing
  • Problems in breathing
  • Infections and red, swollen skin

Note that there is no cure for epidermolysis bullosa yet, but it can be treated to limit its complications and prevent the development of more blisters. That is why it is important to see a doctor at the nearest community healthcare center as soon as you notice any symptoms of the disorder.

Causes

Epidermolysis bullosa is categorized as an inherited disease, which can be passed down to the child by either of the parents or by both parents. In some rare cases, the disorder happens due to a new mutation of the genes in the child. 

There are mainly three types of epidermolysis bullosa, which are categorized based on the layer of the skin where the blisters form. The most common type of the disorder is epidermolysis bullosa simplex, wherein the blisters develop on the outer layer of the skin (epidermis). Usually, the blisters are seen on the palms and the feet of the children, and they heal on their own without any scarring.

The second type of the disease, junctional epidermolysis bullosa, is a severe condition, wherein blisters can develop in infancy and might even lead to scarring of the vocal tissues. Dystrophic epidermolysis bullosa is the third type of the disorder, which leads to thinning and weakening of the skin due to the lack of specific collagen in the dermis.

Complications

Epidermolysis bullosa can have mild to very serious complications, which is why diagnosing and treating the condition is very important in its early stages. Below are some of the most common complications of epidermolysis bullosa.

  • Infections – Blisters on the skin can pave way for bacterial growth and infection, which in turn can put the child at risk to many other diseases.
  • Sepsis – This is a condition that occurs when bacteria from an extensive infection enters the bloodstream and spreads all over the body. Sepsis can be a life-threatening condition in infants, as it progresses very quickly and can lead to shock and organ failure.
  • Contractures – Severe cases of epidermolysis bullosa can make the muscles or tendons in the fingers and toes too tight, thereby leading to abnormal bending of joints. Sometimes, the disorder can cause fusion of the joints in the fingers or toes, which can happen to the knees and elbows as well.
  • Nutritional Problems – Children with blisters in their mouth would find it very difficult to swallow food, which can lead to malnutrition. In newborns, this can affect the level of iron content in the blood, leading to anemia and other conditions. Besides, malnutrition can also cause a delay in wound healing.
  • Constipation – In severe forms of epidermolysis bullosa, blisters can form in the anal area of the patient as well. This can make passing stool very difficult and painful for the child. Moreover, the lack of enough liquids or fiber-rich foods due to blisters in the mouth and/or throat can also lead to constipation.
  • Dental Problems – Scarring of the tissues in the mouth can often lead to tooth decay in children. This can further affect their normal eating habits and lead to malnutrition.
  • Skin Cancer – Young adults with epidermolysis bullosa are often seen to be at a higher risk of developing skin cancer. Usually, patients with epidermolysis bullosa develop a specific type of skin cancer, known as squamous cell carcinoma.
  • Fatality – Infants diagnosed with junctional epidermolysis bullosa are at greater risk of developing infections and other life-threatening conditions. The severe blistering might also affect their ability to breathe.