What is butterfly disease and how is it treated?

Epidermolysis bullosa, butterfly disease or EB is a rare disease that causes the skin to become brittle and blister. Blisters may develop in response to minor injury and even heat, abrasion, scratching, or band-aid application. In severe cases, blisters develop inside the body, for example in the mouth or stomach.

BingMag.com What is butterfly disease and how is it treated?

Epidermolysis bullosa, butterfly disease or EB is a rare disease that causes the skin to become brittle and blister. Blisters may develop in response to minor injury and even heat, abrasion, scratching, or band-aid application. In severe cases, blisters develop inside the body, for example in the mouth or stomach.

Most cases of epidermolysis bullosa are hereditary. Usually, this condition manifests itself in infancy or early childhood, but in some people, its symptoms may not appear until adolescence or early adulthood. Butterfly disease has no cure, but its mild forms may improve with age.

What is the cause of butterfly disease?

Usually, Ibi or butterfly disease is hereditary, that is, its gene is inherited from one It is transmitted to the fetus from parents with the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). Sometimes a gene mutation causes a person to suffer from EB, in which case the butterfly disease gene can be passed on to his children.

Skin consists of an outer layer (epidermis) and an inner layer (dermis). . The area where these layers meet is called the basement membrane. Usually, there are protein anchors between these two layers, which are composed of collagen, and prevent the two layers of the skin from splitting or moving independently.

People with EB lack these protein anchors, and therefore when on the skin Friction occurs, these two layers rub against each other and separate, which can cause painful blisters and sores. It is possible that the blisters appear on mucous membranes inside the body, such as the mouth and esophagus, or involve the urinary tract and bladder. Doctors call children with EB "butterfly children" because their skin is the size of a butterfly. Butterfly wings are fragile. The severity of butterfly disease can vary from mild to severe. According to which layer of the skin the blisters appear, there are different types of EB, which are:

  • Simple or simplex; Simple butterfly disease is the most common type of EB. which involves the outer layer of the skin and mainly the palms and feet. Usually, these blisters heal without scarring.
  • Junctional; This type of EB, which is the most severe form of the disease, can show its symptoms from infancy. In people with junctional butterfly disease, blisters develop where the outer and inner layers of the skin meet. Due to continuous blistering and wounding of the vocal cords, children suffering from this disease may cry harshly.
  • Dystrophic; This type of EB disease that affects both layers It affects the skin, it is caused by a defect in the gene related to the production of a type of collagen. If this substance is absent or its function is impaired, the layers of the skin do not connect properly.

Each type of EB has several subtypes, and so far, doctors have identified more than 30 subtypes.

Risk factors

Having a family history of butterfly disease is the main risk factor for developing this disorder.

Symptoms of butterfly disease

BingMag.com What is butterfly disease and how is it treated?

The signs and symptoms of butterfly disease vary depending on the type, but usually include the following:

  • Fragile skin that blisters easily, especially on the hands and feet
  • Nails that are thick or poorly formed
  • Blisters inside the mouth and throat
  • Thick Thinning of the skin on the palms and soles
  • Creation of blisters and scars (scars) on the scalp and hair loss (alopecia scar)
  • Thinning of the skin (atrophic scars)
  • Small white skin bumps or pimples (milia)
  • Dental problems, such as tooth decay due to weak tooth enamel
  • Difficulty swallowing (dysphagia)

Blisters from EB may not develop until the toddler begins to walk. Sometimes in older children, these blisters appear when the child starts a new physical activity that causes intense friction on the feet. In very mild cases, the person may not experience symptoms until later in life, or the blisters may heal without leaving any scars. The following occur:

  • Infection; Blistered skin is highly vulnerable to bacterial infection.
  • Sepsis; Sepsis It occurs when bacteria from an infection enter the bloodstream and spread throughout the body. Sepsis can cause shock and organ failure and put a person's life at risk. Severe types of EB can cause the fingers or toes to stick together and the joints to bend abnormally. to be This condition affects the function of the fingers, knees, and elbows.
  • Nutritional problems; Oral blisters can make eating difficult and lead to malnutrition and anemia (such as iron deficiency). lead Nutritional problems delay wound healing and slow the growth of children.
  • Constipation; Difficulty in defecation may be related to the presence of painful blisters in the anus. It can also result from insufficient consumption of fluids or high-fiber foods such as fruits and vegetables. Oral and dental problems; tooth decay and tissue problems inside the mouth are common in some types of butterfly disease. .
  • Skin cancer; Teenagers and adults with certain types of EB are at risk of developing a type of skin cancer called squamous cell carcinoma.
  • Death; Babies with severe type of junctional butterfly disease are prone to infection and loss of body fluids due to the presence of extensive blisters. They may also be life-threatening due to blisters that make eating and breathing difficult. Many of these babies die in childhood.

Time to see a doctor

BingMag.com What is butterfly disease and how is it treated?

Call your doctor if you notice skin blisters, especially if you don't know what caused them. Severe blisters can be dangerous and life-threatening for infants. See a doctor immediately if you experience the following symptoms:

  • Difficulty swallowing
  • Difficulty breathing
  • Symptoms of infection such as warm, red skin , painful or swollen, pus from the wound or its unpleasant smell and fever or chills

Diagnosis of butterfly disease

The doctor may suspect EB disease by observing the appearance of the skin, Therefore, your child will likely undergo laboratory tests to confirm the diagnosis. The methods used to diagnose butterfly disease are:

  • Skin sampling for immunofluorescent testing; In this method, a small sample of the affected skin is removed and examined using a microscope. and the light reflection of its layers are checked. This test also determines whether the proteins needed for skin growth are functioning properly.
  • Genetic testing: Genetic testing is sometimes used to confirm the diagnosis, because in most cases EB disease is hereditary. In this procedure, a small sample of blood is taken and sent to a laboratory for analysis.
  • Prenatal testing: Families with a history of EB can receive prenatal testing. and use genetic counseling.

To diagnose butterfly disease in pregnancy, the doctor can perform an amniocentesis test, which involves removing and examining a small amount of amniotic fluid. He may also recommend chorionic villus sampling (CVS), which examines the placental villi.

Treatment of EB disease

If lifestyle changes do not control the signs and symptoms of EB disease slow, the use of other methods including drug therapy, surgery and rehabilitation is recommended. Often this condition progresses despite treatment and sometimes leads to serious complications and death.

Medications

Medications can help control pain and itching as well as treat complications such as blood infections ( Sepsis) help. If the wounds lead to widespread infection (fever, weakness, and swollen lymph nodes), the doctor may prescribe oral antibiotics.

Surgery

BingMag.com What is butterfly disease and how is it treated?

In some cases, surgery may be needed. The options that are used for these conditions are:

  • dilation of the esophagus; blisters and ulcers in the esophagus make it narrow and make eating difficult. Surgical dilation of the esophagus can solve this problem and help food move more easily from the mouth to the stomach. This surgery also has risks, the most important of which is perforation of the esophagus.
  • Placing a feeding tube; To improve the nutritional status and help gain weight, it is possible to use the feeding tube (tube) gastrostomy) should be used. In this method, the surgeon makes a slit in the stomach so that the feeding tube enters the digestive system and the food reaches the stomach directly.
  • Skin graft; If the scar has affected the function of the patient's hand, the doctor may suggest a skin graft. It causes the fingers and toes to stick together or abnormal bending of the joints. Surgery is sometimes recommended to correct these conditions, especially if they interfere with the patient's daily life and prevent them from being active.

Rehabilitation

Working with a rehabilitation specialist ( (physiotherapist or occupational therapist) can help reduce movement limitations caused by injuries and joint stiffness.

Possible Future Treatments

Researchers are studying better ways to treat and relieve symptoms. are butterfly disease, including:

  • Gene therapy
  • Bone marrow transplant (stem cells)
  • Protein replacement therapies
  • Therapies Cell-Based

Lifestyle and Home Remedies

There are several things you can do at home to take care of blisters and prevent new ones from forming. Therefore, you should learn how to take care of the wounds and provide the right foods for butterfly patients.

Blister Care

BingMag.com What is butterfly disease and how is it treated?

The doctor can teach you how to properly care for blisters and how to prevent them from occurring. Talk to him about ways to drain the blisters and apply moisturizer to the affected areas. In general, it is recommended that you do the following for blisters:

  • Wash your hands; Wash your hands before touching your baby's blisters or changing dressings. Wash.
  • Control the pain; About 30 minutes before changing the dressing or other painful procedures, you can use a pain reliever after consulting your doctor. For people who do not respond to pain medications, other options are prescribed, such as anticonvulsants (gabapentin and pregabalin).
  • Clean the skin daily; To clean the wound, Soak for 5 to 10 minutes with a dilute salt water solution or use diluted vinegar. Soaking loosens sticky dressings and reduces the pain of dressing changes. Then wash the wound with lukewarm water.
  • Prick the new blisters; this will prevent the blisters from spreading. Using a sterile needle, puncture each blister in two parts, but leave the upper part intact to protect the underlying skin while the blister is drained.
  • Using therapeutic dressings Apply Vaseline or other moisturizing material to a non-sticky bandage (Mapilex or Vaseline gauze) and place the bandage gently on the wound. If needed, you can use a gauze bandage to keep it in place.
  • Bandage the blistered hands and feet every day; in some severe types of the disease, the dressing Daily helps prevent bending of joints and connecting fingers and toes. For this, you can use special dressings.
  • Watch out for signs of infection; if you notice redness, heat or pus in the blisters, consult your doctor about taking antibiotics.
  • Keep the environment cool; Blisters are often made worse by heat.

Avoid spicy or hard foods that may cause cuts. Scratching and scratching the mouth prevents blisters and reduces mouth pain. Also, people who wear glasses should be careful not to get blisters around their nose and ears.

Healthy nutrition

BingMag.com What is butterfly disease and how is it treated?

Diverse and nutritious diet helps the growth and development of children and improves the speed of wound healing. If mouth or throat blisters make it difficult for your child to eat, try the following solutions:

  • For babies, you can use a syringe, medical dropper with a rubber tip, or bottles designed for premature babies. Use.
  • Give older children nutritious, soft foods that are easy to swallow, such as vegetable soups and fruit smoothies. Puree solid foods with broth or milk.
  • Serve foods and drinks lukewarm, at room temperature or cold.
  • Talk to a nutritionist or doctor about using Talk about supplements to address nutrient deficiencies.

Preventing EB disease

There is no way to prevent EB disease, but you can prevent blisters by following the tips below. and prevent infection:

  • Be gentle with your baby; Your baby or toddler needs to be stroked, but it should be done gently. To lift your child, place him on a soft material such as cotton and hold him under the hips and behind the neck. Never lift the baby from the armpit.
  • Take care of the area where the diaper is placed; If the baby needs a diaper, remove the elastic and adhesive straps and never use wet wipes. Do not use to clean him. Cover the diaper with a non-stick coating or put a thick layer of oxide paste on it.
  • Keep the home environment cool; Adjust the heating and cooling devices so that the house is cool. and its temperature remains constant.
  • Keep the skin moist; Gently apply moisturizers such as Vaseline on the skin.
  • To your child Wear soft clothes; Use soft clothes that are easy to put on and take off. To minimize scratching, remove the label or brand from the clothing and sew a foam pad or soft lining on the inside of the clothing that is in contact with sensitive areas such as elbows, knees, etc. In case of It is possible to use special and soft shoes.
  • Avoid scratching the skin; Cut your child's nails and cover him with soft gloves when he sleeps to prevent skin scratches and infections.
  • Encourage your child to be active; As your child grows, encourage him to participate in activities that do not damage the skin, such as swimming. Children with mild forms of butterfly disease can be active outdoors wearing pants and long-sleeved clothing.
  • Cover hard surfaces; for example, a soft cloth over Put in a car seat and cover the bathtub with a thick towel.

Finally

Butterfly disease is a rare inherited condition that causes the skin to become brittle and blister easily. hit These blisters are often caused by scratching the skin, contact with heat, abrasion, or minor injury. The skin of people with EB is so fragile that even the slightest friction can cause blisters, as the layers of the skin move independently and separate.

Currently, there is no cure for EB. It does not exist, and the aim of existing treatments is to relieve pain, reduce the risk of infection and prevent possible complications.

This article is only for education and information. Before using the recommendations of this article, be sure to consult a specialist doctor. For more information, read BingMag Disclaimer.

Sources: Mayoclinic, Medicalnewstoday

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