Butterfly skin refers to a set of hereditary diseases that alter the structure of the skin. It is a rare disease that affects 1 patient per million inhabitants.
Keratinization and dryness of the epidermis, its slightly acidic pH and the presence of commensal microorganisms and symbionts (among other things) make the colonization of harmful germs and parasites on the skin a very difficult event. Therefore, most skin infections begin as a result of a wound or other type of superficial injury: the skin is an insurmountable barrier that cannot be overcome without a gap appearing.
With all these data, the importance of the skin as an essential biological barrier for human functioning is highlighted. So what happens when a person is born with a congenital and severe skin disease? We give you an answer elaborated in the following lines, because here we tell you everything about butterfly skin.
- We recommend you read: “Skin types: what is yours and how to take care of it?”
What is butterfly skin?
As poetic as the name may seem, we are facinga series of quite complex diseases that can cause great disability in patients. The most visible feature of this pathology in those who suffer from it is that they have skin as fragile as the wings of a butterfly. Hence its nickname, although the correct medical term is epidermolysis bullosa, bullosa or bullosa (EB).
The term butterfly skin or epidermolysis bullosa does not refer to a single pathology, but covers various genetic alterations that manifest themselves in the form of blisters on the skin and mucous membranes (mouth, esophagus, pharynx, stomach, intestine, respiratory and urinary tract, eyelids and cornea) that appear before minimal traumas or spontaneously.
The blisters that characterize this group of diseases can appear in response to a minor injury , heat, rubbing, scratching, or something as simple as using duct tape. In the most serious cases, the lesions also occur in internal organs, which generates various symptoms.
The general prevalence of these pathologies is 10 patients per million inhabitants, so it is considered a clinical group of rare diseases. In any case, some 500,000 people around the world will present some of its variants at any given time and place, a figure that should not be underestimated. Below, we briefly show you the types of butterfly skin that differ clinically.
1. Simple epidermolysis bullosa
A mild subtype of the diseaseonly provokes the appearance of blisters on the soles of the feet and palms. On the other hand, its generalized severe variant causes blisters on the trunk, arms, neck and oral mucosa. It is the most common form of butterfly skin and its inheritance pattern is autosomal dominant. The lesions are located in the basal cells of the epidermis.
2. Epidermolysis bullosa of the junction
A mild subtype affecting only the elbows, hands, knees and feet (typical friction sites) andsymptomatology is usually reduced after breastfeeding. On the other hand, severe variants affect large areas of the skin and conjunctiva layer, mouth, digestive tract, urinary and respiratory systems.
This variant has a recessive inheritance pattern, so it is less common than the previous one. The lesions are located in the lamina lucida (at the level of the dermoepidermal junction, hence its name) and it is the most serious type of epidermolysis bullosa of all.
3. Dystrophic epidermolysis bullosa
Mild and moderate subtypes mainly affect the elbows, hands, knees and feet. Nail malformations often occur, which are sometimes the only symptom in less severe cases. The severe variant presents very obviously and aggressively, with diffuse mucocutaneous blisters at birth and areas of skin that shed completely during delivery.
Dystrophic epidermolysis bullosa may have an autosomal dominant or recessive pattern of inheritance, the latter being more severe. The lesions are located in the dermis, below the dense lamina, at the level of the anchor fibers.
What causes epidermolysis bullosa?
In people with butterfly skin, the proteins that make it possible for the skin to have its resilient characteristics are absent or not functioning properly. More than 1,000 mutations have been documented in at least 19 genes associated with the pathogenesis of EB, so it is a series of diseases completely linked to heredity and genetic patterns.
In autosomal dominant variants, if one of the 2 parents is a carrier of these defective genes, the probability of inheritance to their offspring will be 50%. On the other hand, in recessive types, it is necessary that both parents are at least carriers of the genes involved for the child to manifest the symptoms described. Given this scenario, the risk of a child being born affected is 25%.
What are the symptoms of butterfly skin?
We have already described thesymptoms of each pathological variant, but it never hurts to gather all the possible clinical signs in a list. Based on the information provided by the National Library of Medicine of the United States, here are some of the most important:
- Alopecia and hair loss, due to scarring of blisters in the scalp areas.
- Blisters around the eyes and nose. They also occur inside the mouth and throat, which can trigger difficulty breathing and swallowing.
- Blisters on the skin of spontaneous emergence or as a result of minor injury, for example, rubbing of a rough material or rise in temperature.
- Dental problems and hoarse crying in affected newborns.
- Deformity or loss of structures that give rise to normal nails.
Severe junction epidermolysis bullosa and dystrophic epidermolysis bullosa cause significant mortality before 2 years of age, leading to malnutrition, secondary infections from skin wounds and dehydration, among other harmful events. On the other hand, in milder forms the blisters tend to decrease with age, even allowing the patient to lead a relatively normal lifestyle. The prognosis depends on each case.
Treatment
The first approach is usually conservative, that is, based onchanges in the patient’s routine and their way of relating to the environment. This involves washing hands regularly, managing pain, cleaning the skin daily, applying bandages to the most affected areas, wrapping hands and feet with blisters daily, combating possible signs of infection, and keeping the patient in a cool environment whenever possible.
The treatment itself (drugs and surgery) aims to address 3 fronts: prevent friction and trauma of the skin and mucous membranes, promote healing of blistering sites and avoid possible complications. For this, medications are used to relieve pain, anti-inflammatories, itch reducers and preventive antibiotics that prevent the sudden onset of septicemia.
In the surgical field, esophageal widening is conceived (in cases where scars and blisters make swallowing impossible), the placement of a feeding tube (in serious patients), skin grafts in areas that do not heal and many other events. The treatment of butterfly skin is not unique, so it requires a multidisciplinary medical team that addresses the pathology from several perspectives at the same time. Unfortunately, there is no real solution or cure for the disease.
Summary
As poetic as the common name of the disease may be, butterfly skin or epidermolysis bullosa (EB) is a group of pathologies that, at a minimum, cause pain and discomfort in the first years of life and, at most, cause the death of the patient in relatively short periods. While it is possible to live with the milder forms, variants that compromise the internal mucous membranes are usually lethal.
As there is no definitive treatment for epidermolysis bullosa, the best thing to do is to put the patient in the hands of a doctor and make life as easy as possible from home.
To the classic question “what do you do?” I always answer “basically I am a psychologist”. In fact, my academic training has revolved around the psychology of development, education and community, a field of study influenced my volunteer activities, as well as my first work experiences in personal services.
