A fleeting touch or friction of clothing against the skin may be something that most people barely feel, but for people with moth disease, it may be the beginning of a painful blister or wound that requires constant care.
This fragility reveals a rare genetic disease whose effects, in severe cases, are not limited to the skin, but may extend to various organs of the body.
Dr. Janine Magno, medical director of the “Debra Brazil” association specializing in epidermolysis bullosa, or the so-called “butterfly disease,” and coordinator of the Brazilian national registry for the disease, and professor of pediatric dermatology at the Blumenau Regional University in the state of Santa Catarina, says that the medical name of the disease is “epidermolysis bullosa,” and it is a rare genetic disease characterized by a defect in the adhesion of epidermal cells, and affects the skin and mucous membranes.
Magno added, in statements to Al Jazeera Net via email, that this defect makes the skin very fragile, so that its layers can separate when exposed to the slightest shock or friction, and painful bubbles and wounds appear.
She adds that the disease results from a defect in the production of proteins responsible for the cohesion of the skin, as one of these proteins may be variable or completely absent, and the severity of the disease varies depending on the degree to which the protein is affected.
Four types vary in severity
Magno explained that epidermolysis bullosa is classified into 4 main types according to the level at which the separation of skin layers occurs and bullous formation occurs, while these types in turn are divided into sub-forms that are determined based on clinical, genetic, histological and biochemical features.
She added that the first type is “simple epidermolysis bullosa,” in which the affected cells of the basal layer of the skin lead to a defect in the keratin, and the bubbles are often superficial and limited and do not leave deep scars.
As for dystrophic epidermolysis bullosa, Magno says that the bubbles in it form at a deeper level between the dermis and the epidermis, which may lead to the appearance of scars and long-term complications, and the mucous membranes can be affected in addition to the skin.
Magno pointed out that the “junctional” type in which separation occurs at the area where the skin connects to the dermis, and the blisters are deep and may cover a wide area of the body, and the mortality rate during the first year may reach about 40% in some groups of patients with the junctional type.
This percentage is approximately consistent with the results of a study published in The Journal of Pediatrics, which monitored a cumulative risk of death that ranged between 40% and 44.7% during the first year in two groups of junctional type patients. These results do not mean that the percentage applies to all people with this type, due to the different severity of the subforms.
As for the fourth type, “Kendler Syndrome,” Magno explains that detachment can occur at multiple levels of the skin, and the blisters may be accompanied by sensitivity to light and gastrointestinal involvement, in addition to a higher risk of skin cancer.
Magno emphasizes that genetic sequencing represents the “gold standard” for identifying forms of epidermolysis bullosa, as it allows for the detection of the responsible mutation and helps in accurately determining the type.
When the mutation is transmitted within the family
Magno says that epidermolysis bullosa is a hereditary disease, but the method of its transmission varies depending on the type and mutation causing it. It may be transmitted in a dominant or recessive inheritance pattern, and a new mutation may appear in the child that he did not inherit directly from one of the parents, in what is known as a “de novo” mutation.
She explains that the probability of transmitting the disease or mutation varies depending on the inheritance pattern, as the probability of infection is 25% in recessive forms when the father and mother are carriers of the causative mutation, while it can reach 50% in dominant forms when one of the parents carries the mutation.
A disease that goes beyond the skin
Magno describes epidermolysis bullosa as a “multisystem” disease, explaining that epithelial tissue is not found only in the skin, but also lines the mucous membranes and parts of various organs, which explains the wide range of complications in some patients.
Blisters and chronic wounds represent the main problem – according to Magno – but they may also be associated with an increased risk of infection, the appearance of scars and permanent changes in tissues, in addition to an increased risk of cancer in some forms of the disease, adding that complications may include narrowing or changes in the digestive system, respiratory system and urinary tract. Some patients may also suffer from chronic malnutrition, heart and eye problems, delayed puberty, and joint complications that may affect the ability to move.
She explained that these complications make patient care a continuous process that does not stop at dressing wounds, but rather requires monitoring organ functions, nutritional status, and movement, according to the severity and type of the disease and the problems that appear in each patient.
The disease also exhausts the family
The burden of moth disease does not stop with the infected person himself. A study published in the journal Scientific Reports in 2025, which included 100 parents of children with epidermolysis bullosa, showed that parents reported high levels of stress related to caring for children, in addition to a lower quality of life. High stress was also associated with a lower ability to adapt and quality of life.
The study indicated that daily care for wounds, pain, and the constant needs of the child can impose great psychological and time burdens on the family, and the researchers concluded the importance of providing psychological and educational support to the parents in addition to the medical care provided to the child.
From bandages to gene therapy
Magno says that current treatment depends mainly on continuous treatment of wounds using non-adhesive bandages that help heal and reduce the possibility of infection, in addition to multidisciplinary care to monitor the patient’s condition and try to prevent long-term complications.
She confirms that the primary goal of current care is to improve the quality of life of the patient, as the nature of the disease requires continuous follow-up, and the patient may need the intervention of different medical specialties depending on the affected organs and the complications he suffers from.
Magno points out that recent years have witnessed the emergence of a group of treatments aimed at improving wound healing, some of which have already received regulatory approvals, while others are still under study and trials.
She adds that one of the most notable developments was the approval of a gene therapy for chronic wounds in people with dystrophic epidermolysis bullosa, known as B-VEC, and its marketing has already begun in some countries.
Developments did not stop at this treatment. In April 2025, the US Food and Drug Administration approved another gene therapy bearing the trade name “Zevaskyn,” which relies on sheets of genetically modified patient skin cells to treat wounds in people with the recessive dystrophy form of the disease.
Magno believes that the accelerated research in the field of gene therapy holds promising prospects for those affected, with many studies targeting the treatment of the underlying causes of the disease and not wounds alone. She expresses her belief that the future may witness the emergence of new treatments that will bring patients closer to the greater goal, which is reaching a treatment capable of achieving complete recovery.