Butterfly disease.. skin fragility and unseen suffering

A genetic defect that makes the skin fragile

Dr. Janine Magno, Medical Director of the "DEBRA Brazil" association specializing in Epidermolysis Bullosa, explains that the disease results from a genetic defect that affects the proteins responsible for the cohesion of skin layers. These proteins may be altered or absent, leading to the separation of layers when exposed to simple trauma or friction, resulting in painful blisters and wounds of varying severity.

The symptoms and complications of the disease vary depending on the type of genetic defect and the extent of its impact on the proteins responsible for skin cohesion.

Four types of varying severity

Epidermolysis Bullosa is divided into four main types, according to the level of skin layer separation, each with different characteristics and complications.

Simplex type: Blisters often occur in the superficial layers of the skin, may be limited, and do not leave deep scars.

Dystrophic type: Blisters form at a deeper level and may leave scars and cause long-term complications, with the possibility of mucous membranes being affected.

Junctional type: Separation occurs at the junction between the epidermis and the dermis, and large, severe blisters may appear. In some acute forms, the risk of death increases during the first year of life.

Kindler syndrome: Skin separation may occur at multiple levels, and the disease can be accompanied by photosensitivity, digestive system problems, and an increased risk of skin cancer.

Magno points out that genetic testing, particularly genetic sequencing, helps identify the mutation causing the disease and accurately classify its type, which supports choosing the appropriate care for each case.

How is the disease transmitted?

Butterfly disease is transmitted through genes, but the chances of infection vary depending on the inheritance pattern and the responsible mutation. The disease can be dominant or recessive, and it can also appear as a result of a new genetic mutation in a child without being directly inherited from either parent.

In recessive forms, the probability of a child being affected is 25% in each pregnancy when both parents are carriers of the causative mutation. In dominant forms, the probability can reach 50% if one of the parents carries the relevant mutation.

Complications that go beyond the skin

The most prominent challenges of the disease are the recurrent and chronic blisters and wounds, but they can be the beginning of a series of complications, especially in severe cases.

These complications include an increased risk of infection, scarring, and permanent tissue changes, as well as an increased risk of skin cancer in some types. Patients may also suffer from narrowing or changes in the digestive, respiratory, or urinary tracts, in addition to chronic malnutrition and problems with the eyes, heart, and joints.

Complications may also affect growth, puberty, and mobility, requiring monitoring of nutritional status and organ functions in addition to daily skin and wound care.

Suffering that extends to the family

The impact of butterfly disease is not limited to the patient, but extends to their family, who bear the responsibility of daily care, including changing bandages, dealing with pain, monitoring wounds, and reducing the risks of infection.

A study published in 2025 in the journal "Scientific Reports," which included 100 parents of children with the disease, showed high levels of stress associated with caregiving and a decrease in the quality of life among participants.

These results highlight the importance of providing psychological and educational support to families, in addition to medical care, to help them cope with the ongoing demands of the disease.

New treatments open a door of hope

Traditional treatment relies primarily on protecting the skin and using non-adhesive bandages that help heal wounds and reduce the chances of infection, in addition to multidisciplinary medical follow-up to limit complications and improve quality of life.

However, scientific developments have begun to open new horizons, especially in the field of gene therapies that aim to repair the defect associated with the disease, rather than just dealing with its symptoms.

One of the most prominent of these developments is the "B-VEC" treatment, designed to help heal wounds in patients with the dystrophic type of Epidermolysis Bullosa, which has received regulatory approvals in some countries.

In April 2025, the US Food and Drug Administration approved another gene therapy under the trade name "Zevaskyn," which relies on sheets of genetically modified patient skin cells to treat wounds in patients with the recessive dystrophic form of the disease.

Despite these developments, treatment still depends on the nature of the case, the type of disease, and the associated complications, while research continues to develop options that target the underlying genetic causes.

Between daily care and progress in gene therapy, hopes are increasing to improve the lives of those with butterfly disease, reduce their suffering, and reach more effective treatments in the future that target the roots of the disease.