What Is Epidermolysis Bullosa?


Epidermolysis Bullosa ( EB ) is a group hereditary diseases that causes the skin to become brittle and easily blister. Blisters can occur due to minor injuries, exposures to hot weather, friction or scratching. In general, blisters can be seen at birth. But in some cases, new blisters appear in adolescence or early adulthood.

The skin consists of three layers, namely the epidermis, dermis, and subcutaneous or hypodermic layers. The epidermal layer is the outermost layer of skin, which is further divided into 5 sub-layers. Below it is the dermis layer, which is thicker than the epidermal layer. While the hypodermis layer is the lowest layer, which connects the skin layer with the underlying tissue.

Bullous epidermolysis can cause abnormalities in the epidermal layer, dermis layer or basement membrane (the part between the epidermal layer and the dermis layer).


Causes of Epidermolysis Bulosa

A person suffers from bullous epidermolysis due to inherited genetic disorders. Depending on the type, this disease can be inherited autosomal dominant or autosomal recessive.

Autosomal is said to be dominant if a genetic abnormality can be lowered only with one parent having a mutation in the gene. Whereas autosomal recessive requires gene mutations in both parents. In some cases, this abnormality occurs due to spontaneous gene mutations (not inherited from parents), which can then be passed on to the affected child.

Bullous epidermolysis is divided into several types, namely:

Epidermolysis of bullous simplex
Epidermolysis of bullous simplex is caused by mutations in the KRT5 or KRT14 gene. Both genes are related to the formation of keratin 5 and keratin 14, a type of protein that affects the strength and elasticity of the outermost skin layer (epidermis). Mutations will make the epidermis easily damaged and injured.

EB simplex covers 70 percent of all cases of bullous epidermolysis, and is the mildest type. This condition is classified as autosomal dominant. In some cases, mutations can occur when the baby is still in the womb, although both parents of the baby do not experience this condition.

Dystrophic bullous epidermolysis
Bullous epidermolysis is caused by mutations in the COL7A1 gene, namely genes associated with the formation of type 7 collagen. Mutations in the COL7A1 gene will interfere with the formation of type 7 collagen, resulting in the epidermis and dermis not being connected.

EB dystropic includes 25 percent of overall cases of bullous epidermolysis. This condition can be classified as autosomal dominant or autosomal recessive.

Bullous junctional epidermolysis
Bullous junctional epidermolysis is autosomal recessive, and can occur at birth, or sometime after birth. This type of blisters on the EB, occurs in the basement membrane, which is the area between the epidermal layer and the dermis layer.

Junctional EB is caused by mutations in the LAMA3, LAMB3, and LAMC2 genes, which form a laminin protein 332. Mutations in these genes can trigger abnormalities or failure of function of laminin 332, so the epidermal layer will be brittle and easily injured. Mutations can also occur in the COL17A1 gene that composes collagen 17, and makes the skin blister easily.

Junctional EB is the most severe type of EB, and covers 5 percent of all EB cases. About 40 percent of babies with this condition die at the age of 1 year, and most do not last more than 5 years.

Kindler syndrome
Kindler's syndrome is a bullous epidermolysis type that is very rare. This condition is triggered by mutations in the FERMT1 gene, which is involved in the formation of kindlin-1 proteins. Abnormalities in the formation of the kindlin-1 protein can cause the dermis and epidermis to not connect.

Kindler's syndrome is an autosomal recessive condition, and it is known that this syndrome can increase the risk of squamous cell carcinoma. Squamous cell carcinoma is a skin cancer that forms in squamous cells, which are cells that form the middle and upper layers of the skin.

Epidermolysis bullous acquisita
Epidermolysis bullous acquisita is the least common type of EB, and is very different from other EB types. EB acquisita is an autoimmune disease , which is a condition when the immune system attacks the body's own cells. EB acquisita generally develops at the age of 30-40 years.

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Symptoms of Epidermolysis Bullosa
Symptoms that commonly occur in bullous epidermolysis sufferers include:
  • The skin easily blisters, especially on the hands and feet
  • The skin looks thinner
  • Itchy and painful skin
  • Small white bumps like zits ( milia )
  • Blisters around the eyes and nose
  • Blisters and scar tissue on the scalp
  • Hair loss
  • Blisters in the mouth and esophagus
  • Cavities due to poor enamel formation
  • Difficulty swallowing ( dysphagia )
  • Respiratory disorders
  • Nail deformities or loose nails.

Epidermolysis Bulosa Diagnosis

Skin specialists can diagnose bullous epidermolysis, if there are a number of symptoms described earlier. But to make sure, the doctor will do a follow-up examination, in the form of:
  • Skin biopsy. In this procedure, the dermatologist will take a portion of the skin tissue that has an abnormality, to be examined under a microscope. Through a skin biopsy, the doctor can also find out whether the protein needed for skin growth is functioning normally or not.
  • Genetic test. Genetic testing is done by taking a patient's blood sample, to be examined in the laboratory. This check is done to see changes in the genes.

Treatment of Epidermolysis Bulose

Treatment of bullous epidermolysis aims to reduce symptoms, prevent skin damage, and reduce the risk of complications, such as infection and malnutrition. However, in some cases, the disease continues to develop and even causes death, even though the patient has undergone treatment.

Bullous epidermolysis treatment methods include administration of drugs, surgery, and physiotherapy, as will be explained below.

Drugs
Several types of drugs can be used to treat pain, itching, and infection in the bloodstream ( sepsis ). The doctor will prescribe antibiotics to drink if there are signs of the spread of infection, such as fever or swollen lymph nodes.

Operating procedure
Some surgical methods that can be done to treat bullous epidermolysis include:
  • Widening of the esophagus. Lepuhan in the esophagus (esophagus) can cause narrowing of the esophagus, making it difficult for sufferers to eat. The operation is done by inserting a balloon into the esophagus. Then, balloons are developed so that the esophagus widens, so that food can pass through the esophagus easily. 
  • Restoring mobility of the organs of the body. Blisters and scar tissue that continues to appear can trigger changes in shape in the joints and organs. For example, fingers that are fused or bent, thus making the movement become abnormal.
  • Installation of a gastrostomy tube. The gastronomic tube is inserted into the stomach from the outer wall of the stomach so that food can go directly into the stomach. This action will help sufferers who have difficulty eating to keep getting nutritional intake.
  • Skin transplant. This procedure is carried out if bullous epidermolysis affects the function of the affected part of the body.
Physiotherapy
Scarring and blisters on the skin can make the movement of body parts limited. To improve the patient's ability to move, the doctor will recommend physiotherapy .

In addition to a number of methods above, the doctor will also advise patients to take several steps at home, including:
  • Apply moisturizing creams, such as petroleum jelly , to the blisters and cover with a bandage. Remember to always wash your hands before touching blisters and changing the bandages.
  • Take painkillers 30 minutes before changing the bandage. Consult with your doctor before using these drugs.
  • Clean the wound by soaking it in a salt or vinegar solution for 5-10 minutes, then rinse with warm water. This step can reduce pain, and help the bandage stick off by itself.
  • Using a sterile needle to break the newly formed blisters so as not to spread. Do not peel the remaining skin, and let it dry to protect the skin layer on
  • Immediately see a doctor if there are signs of infection, such as redness or pus in the blisters. The doctor will prescribe antibiotics .
  • Avoid hot weather, because it can worsen blistering conditions.
Blisters that appear in the oral cavity or throat can make it difficult for children to eat. The following are ways that can be done so that children still get adequate nutrition:
  • In infants who are still breastfeeding, use a special pacifier, syringe, or drug pipette with rubber ends.
  • For children, serve nutritious, soft, easy to swallow foods, such as soups, vegetables, fruit juices, and solid foods mixed with milk or broth ( puree ).
  • Serve food and drinks at warm temperatures, at room temperature, or cold.
  • Consult with a doctor before deciding whether a child needs to be given a supplement.

Epidermolysis Bulosa Complications

If untreated, bullous epidermolysis can cause a number of complications, such as:
  • Sepsis . Sepsis is a dangerous condition that occurs when bacteria enter the bloodstream, then spread throughout the body. Sepsis can develop rapidly, causing shock and organ failure.
  • Constipation . Blisters in the anal area can cause people to have difficulty defecating. However, this condition can also occur due to lack of nutrition or dehydration.
  • Infection . Blisters are prone to bacterial infection.
  • Tooth and mouth disease . In some cases, bullous epidermolysis can trigger tartar, and can cause cavities or dates.
  • Eye disorders . Blisters in the eye can trigger dangerous conditions in the eyes, and can even cause blindness.
  • Joint disorders Severe bullous epidermolysis can cause fingers to stick and make joints inflexible (contractures).
  • Malnutrition . Difficulty eating due to blisters in the mouth area can make patients suffer from malnutrition and low iron levels in the blood (anemia). This condition can inhibit the healing process of wounds, and slow growth in children.
  • Skin cancer . Kindler syndrome in adolescents and adults can trigger the development of squamous cell carcinoma.
  • Death . Babies who suffer from bullous junctional epidermolysis have a high risk of infection and dehydration, due to diffuse blisters. Blisters can even make it difficult for babies to eat and breathe, thus triggering death at an early age.

Prevention of Epidermolysis Bulose

Prevention of bullous epidermolysis is done to avoid the onset of blisters and infections, including:
  • Pre-pregnancy tests in people who have a history of bullous epidermolysis.
  • Adjust the temperature in the house to keep it cool.
  • Maintain skin moisture by applying petroleum jelly .
  • Choose clothes that are soft, easy to remove and wear again. To reduce scratches, sew soft pads on clothing on the elbows and knees. Use special shoes if possible.
  • Make sure the nails remain short, and wear gloves to prevent infection from scratching the wound.
  • Carry a child who suffers from the EB slowly and give a soft base, especially on the buttocks and back of his neck. Don't lift the child from under his arm.
  • If a baby or child suffering from EB wears a disposable diaper, remove the elastic rubber attached to the diaper. Then coat the inside of the diaper with a non-sticky bandage, or apply a diaper with a zinc oxide paste before use.
  • Cover the surface of a hard object with soft material, for example by placing a thick towel on the child's bath.

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