Children's Hospital Colorado

Epidermolysis Bullosa (EB)

What is epidermolysis bullosa (EB)?

Epidermolysis bullosa (EB) is a family of inherited skin diseases characterized by fragile skin that is prone to breakdown and blistering. Blisters can be found on the skin, but can also occur on the mouth, esophagus and eye.

EB is classified into four main types of diseases, ranging severity from very mild to very severe and debilitating. In the mildest cases, blistering is limited to the hands and feet after strenuous activity. In severe cases, a patient can experience scarring and disfiguring effects caused by their EB and endure constant, painful sores covering most of their body. Severe forms of EB can also cause other problems, such as poor growth, anemia, low bone mass, chronic constipation and trouble swallowing.

Unfortunately, there is no cure for EB. Treatment mainly centers on wound care and early diagnosis and treatment of complications.

What causes EB?

EB is a genetic disease, involving least 14 different genes. Genetic changes lead to absent or abnormal structural proteins that are needed to anchor the top layer of skin (epidermis) and middle layer of skin (dermis) together. Because of these abnormalities, the skin is not able to withstand friction, resulting in the easy formation of blisters and sores.

Who gets EB?

EB can be found in people of both sexes, and of all ages, races and ethnic groups. EB is found in approximately 1 out of every 50,000 live births, making it a fairly rare disease.

EB is inherited, meaning one or both parents either have EB or are carriers for EB. A geneticist can assess the future likelihood of having a child with EB if it is known that one or both parents carry or have EB.

What are the signs and symptoms of EB?

  • Blistering or missing skin present at birth
  • Blistering on the skin in response to minor friction or trauma
  • Blistering or erosions affecting the mouth or eyes
  • Blisters in response to temperature change
  • Blisters that scar as they heal
  • Milia (tiny white bumps on the skin) in areas of prior blisters or sores

Symptoms of EB are present at birth or in early infancy. Other times, symptoms do not arise until later on with crawling, walking or physical activity. Symptoms may vary, depending on the type of EB. Blisters may be localized, appearing only on the hands and feet, or generalized, present on much of the body surface.

What tests are used to diagnose epidermolysis bullosa?

In some cases, EB can be presumed based on symptoms and family history. In many cases, a skin biopsy is taken for testing. Genetic testing is an additional option.

How do doctors at Children's Hospital Colorado make a diagnosis?

If one of our doctors suspects that your child has EB, there are a number of things they might do to confirm the diagnosis, including:

  • Skin biopsy: a small piece of the skin is removed and examined with special microscopic tests to determine where the skin is separating.
  • DNA analysis: a small sample of blood is obtained and sent to a laboratory for DNA sequencing to explain mutations related to the proteins in the skin. This method can determine the type of EB and the pattern of inheritance, and might be useful for future family-planning.

How is Epidermolysis Bullosa treated?

Unfortunately, there is no cure for epidermolysis bullosa currently. Treatment centers on wound care and managing other symptoms of EB. It is important to remember that there is no one-size-fits-all approach to treating EB. A patient might need all of these approaches, or just a few:

  • Frequent bandaging in order to keep blisters clean and protected is a very essential and important aspect of EB care. Some blisters might also need to be lanced (popped open) and drained.
  • Medication may be used to treat pain and itching associated with EB.
  • Soaking in baths with bleach or pool salt can also be comforting for patients with EB.
  • In the event of trouble swallowing and esophageal blistering/scarring, a procedure called a dilatation might be considered in order to widen the esophagus. If the patient is unable to gain weight, a gastrostomy tube can be considered in order for the patient to receive adequate nutrition.
  • Surgery can also improve deformities of the hands.
  • Physical and occupational therapy are encouraged to help maintain range of motion and to work out modifications for daily-life activities.

Why choose Children's Colorado for your child's EB treatment?

Children's Colorado offers the only center in the region for babies, kids and teens with epidermolysis bullosa. Our specially trained and experienced clinicians provide the delicate, individualized care that kids require. Patients typically participate in physical and occupational therapies to address issues of mobility, equipment needs, feeding and hand function.

The Epidermolysis Bullosa Clinic

We know that no two cases of EB are the same. We offer a multidisciplinary clinic, available once every month, where patients see clinical staff from various departments of Children's Colorado, including dermatology, pediatrics, nutrition, physical therapy, occupational therapy, anesthesia and social work. In addition, consultation with dentistry, pain management, psychiatry, gastroenterology and other specialists is available, depending on the patient's needs.

Decisions regarding pain management during procedures and exams are made with the family and the EB team to determine what is best for each child. Patients have access to anesthesia services and a pain management team to minimize pain for procedures and exams, and a full-time EB nurse who assists with in-hospital dressing changes. The clinic also provides a valuable opportunity for parents to network and talk to other parents of affected children.

Following each clinic, the EB team will coordinate care and formalize recommendations to aid your child's primary care provider. A full report is generated after each visit.

Winter adventure camp

Each year the EB clinic sponsors a winter adventure camp (Camp Spirit) for children with recessive dystrophic EB. The camp is held in Winter Park, Colorado, where the campers ski in bi-skis, learn to drive a dog sled, ride snow mobiles and see wildlife. Campers also get to participate in engaging evening activities. For more information about the Winter Adventure Camp, please contact the Dermatology Clinic at 720-777-8445.

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