A skin disease considered rare, epidermolysis bullosa is a genetic disease with no cure whose main characteristic is the formation of blisters all over the body and mucous membranes. The skin’s high sensitivity and the ease of injury at the slightest touch cause more blisters to appear, resulting in intense pain and scarring across the body. According to studies by the Brazilian Society of Dermatology, blistering injuries occur due to changes in the synthesis of proteins responsible for binding the skin’s layers together. With this change, the skin lacks the normal consistency and tears easily from any friction. There are cases where a baby is born with blisters on its body, and sometimes even missing skin in certain areas, leaving them susceptible to infections and severe complications right after birth.

IMPORTANT: Children with epidermolysis bullosa experience pain similar to third-degree burns. Therefore, they require ointments, dressings, and intensive care.

The skin consists of two layers: the epidermis and the dermis. In healthy people, proteins strengthen the contact between these layers, providing greater resistance. In children with epidermolysis bullosa, the lack of this protein leaves their skin thin and extremely fragile. For this reason, children suffering from the disease are often called “crystal skin”, “cotton candy” babies, or even “butterfly children” due to the fragility and delicacy reminiscent of a butterfly’s wings.

Are There Areas of the Body More Affected?

Areas with skin folds or extremities tend to be more sensitive and, therefore, show more severe lesions, making movement even more difficult. Even though it is a rare and serious disease, it is not contagious, so the child can attend school normally, except for some physical activities which must be approved by the doctor monitoring their treatment.

Degrees of Epidermolysis Bullosa

The severity of epidermolysis bullosa ranges from mild to severe cases, which can be fatal, and is presented in three types:

  • Simple Epidermolysis Bullosa – Blisters form intensely and painfully, but healing is quick and does not leave marks. Children with this type often improve as they get older and the disease becomes more manageable with age.
  • Dystrophic Epidermolysis Bullosa – With this type, blisters appear intensely but are scattered over the entire body. Recovery is slower and each blister leaves deep scars on the skin.
  • Junctional Epidermolysis Bullosa – Considered the most severe type, blisters affect not only the skin but also the esophagus, duodenum, intestines, and stomach. This causes severe internal pain and interferes with eating and digesting food.

Simple tasks for healthy people such as putting on clothes, shoes, or making a bed, can be truly difficult for a child with epidermolysis bullosa. In addition to intense pain, any friction with fabric or an object is enough to create a new wound.

Symptoms of Epidermolysis Bullosa

The main symptom of the disease is blisters on the body, especially on the hands, arms, elbows, feet, and knees. In severe cases of epidermolysis bullosa, the blisters extend from the mouth to the esophagus, accompanied by difficulty eating. It is also common to see:

  • Atrophy of hands and feet
  • Loss of nails
  • Malnutrition
  • Poor healing

A child’s difficulty feeding, in addition to problems absorbing nutrients, can lead to severe malnutrition and, if not treated promptly, may result in rapid death.

How Is the Diagnosis Made?

Diagnosis is made through a clinical examination where, in addition to a physical assessment, the child’s history and further tests will confirm the disease. Details such as the size of lesions and blisters, severity, and location will be analyzed, as well as information about family history. Tests with the help of an electron microscope and blister biopsy are essential for a conclusive diagnosis. Biopsy should collect the fresh blister roof; otherwise, it will not reach the correct result. Antigen mapping tests can also help with the diagnosis, as well as radiological studies. Normally, doctors rule out other diseases before confirming epidermolysis bullosa. Once the diagnosis is confirmed, treatment needs to begin immediately. Epidermolysis bullosa has no cure, but the symptoms can be managed. If not properly treated, the lesions can worsen and develop into pseudosyndactyly. This condition further impairs movement, especially when it occurs in the hands and feet, affecting, deforming, and compromising the limbs and fingers.

How to Treat Epidermolysis Bullosa

For babies born with visible symptoms, the pediatrician will refer them to a specialist for appropriate treatment. For cases that develop as the child ages, after analysis and diagnosis, the next steps will be determined. Medications used in treatment do not cure the disease nor prevent new blisters and lesions from arising. However, they can reduce or control their occurrence, allowing the child to be properly nourished and maintain good health. Lesions should be treated individually and with care to prevent them from worsening or becoming infected. With the aid of a sterile needle, blisters should be punctured and drained, which brings immediate relief. After drainage, the area should be washed with antiseptic soap and protected with a clean, non-adherent dressing, away from any secretions.

How to Reduce the Pain and Discomfort of Blisters?

To decrease the pain and discomfort of blisters, draining and controlling them with specialized creams and ointments can help. When removing or changing dressings, it should be done with mineral oil or during bathing to avoid injuring the skin by pulling.

Which Specialists Should Provide Care?

Treatment should be overseen by various specialists, including:

  • Pediatrician
  • Dermatologist
  • Ophthalmologist
  • Orthopedist
  • Gastroenterologist

All medications and treatments must be prescribed by specialists. No medication or home remedies should be used without medical prescription and approval, as they can mask the diagnosis or even worsen the lesions. To reduce the risk of injury, some care is recommended, such as wearing lightweight cotton clothing, cutting out all clothing tags, and drying off gently with a soft towel after bathing. Sleeping with gloves and socks can also help prevent accidental injuries during sleep. Photo: Yovanna.Gonzalez See also: West Syndrome