Epidermolysis Bullosa 

Epidermolysis Bullosa - Know It All!

Editorial

Epidermolysis Bullosa — Know It All!

All you need to know about Butterfly Children Disease.

Know your ailment well, so you can manage it better!!

Here we come with Epidermolysis Bullosa today!

Overview:

Epidermolysis Bullosa is also referred to as Butterfly Children Disease, as the skin of affected people is as fragile like the wings of a Butterfly!

Epidermolysis bullosa is a group of rare diseases which make the skin fragile and easy to blister. Skin tears, sores, and blisters arise when something rubs or bumps against the skin. They will turn up on the body anywhere. Blisters can also grow within the body in extreme cases, such as in the mouth, oesophagus, stomach, intestines, upper airways, bladder, and genitals.

Most people with epidermolysis bullosa inherit their parents from a mutated (changed) gene. The mutation of the gene changes how the body makes proteins which help hold the skin together and stay strong. When you have bullosa epidermolysis one of these proteins is not forming properly. Skin layers don’t normally bind, making tearing and blistering easy for the skin.

Epidermolysis bullosa is the primary symptom of delicate skin that leads to blistering and tearing. The disease symptoms usually start at birth or during infancy and range from mild to severe.

There is no cure for the disease; however, scientists are continuing to study alternative epidermolysis bullosa remedies and cures. A doctor will treat the symptoms, which could include pain relief, burn and tear care to help you deal with the disease.

Types:

There are four main types of bullosa epidermolysis. The skin has a layer top or outer, called the epidermis, and a layer of dermis below the epidermis. The membrane at the basement is where the skin layers cross. Doctors determine the form of epidermolysis bullosa based on the position of the skin changes and the known gene mutations. Species of bullosa epidermolysis include:

  • Epidermolysis bullosa simplex: Blisters occur in the lower part of the epidermis.
  • Junctional epidermolysis bullosa: Blisters occur in the top portion of the basement membrane, due to problems in attachment between the epidermis and basement membrane.
  • Dystrophic epidermolysis bullosa: Blisters occur in the upper dermis due to problems in attachment between the basement membrane and the upper dermis.
  • Kindler syndrome: Blisters happen in multiple layers of the skin, including the basement membrane.

Scientists have described over 30 disease subtypes which are groupings under the four major types of bullosa epidermolysis. Doctors can focus treatment of the disease by knowing more about the subtypes.

A fifth form of the disease, epidermolysis bullosa acquisita, is a rare autoimmune disorder that causes the immune system of the body to attack a specific type of collagen in the skin of the individual. Occasionally this occurs in another illness like inflammatory bowel disease. Medicine very seldom triggers the disease. In comparison to other forms of bullosa epidermolysis, the symptoms can start at any age, although many people develop symptoms during middle age.

Symptoms of Epidermolysis Bullosa:

The symptoms of epidermolysis bullosa vary depending on the type you have. Everyone with the disease has fragile skin that blisters and tears easily. Other symptoms, by type and subtype, include the following.

  • Epidermolysis bullosa simplex is the most common form of the disease. People who have a mild subtype develop blisters on the palms of the hands and soles of the feet. In other more severe subtypes, the blisters occur over the entire body. Depending on the subtype of the disease, other symptoms may include:
  • Thickened skin on the palms of the hands and soles of the feet.
  • Rough, thickened, or absent fingernails or toenails.
  • Blisters inside the mouth.
  • Changes in the pigmentation (colour) of the skin.

Junctional epidermolysis bullosa is usually severe. People who have the most serious form can have open blisters on the face, trunk, and legs, which may become infected or cause severe dehydration due to fluid loss. Blisters also can develop in the mouth, oesophagus, upper airway, stomach, intestines, urinary system, and genitals. Other symptoms and problems related to the disease may include:

  • Rough and thickened or absent fingernails and toenails.
  • Thin appearance to the skin.
  • Blisters on the scalp or loss of hair with scarring.
  • Malnutrition resulting from the poor intake of calories and vitamins due to blistering in the mouth and gastrointestinal tract.
  • Anaemia.
  • Slow overall growth.
  • Poorly formed tooth enamel.

Dystrophic epidermolysis bullosa has slightly different symptoms, depending upon whether the disease is dominant or recessive; however, most people have the recessive subtype.

Recessive subtype: Symptoms vary from mild to severe and may include:

  • Blisters usually appear over large areas of the body; in some milder cases of the disease, blisters may only appear on feet, elbows, and knees.
  • Loss of nails or rough or thick nails.
  • Skin scarring, which may cause the skin to be thick or thin.
  • Milia, which are small white bumps on the skin.
  • Itching.
  • Anaemia.
  • Slow overall growth.

Severe forms of the recessive subtype can result in eye damage, tooth loss, blistering within the mouth and gastrointestinal tract and fusing the fingers or toes. There is a high risk of skin cancer also developing. This cancer appears to develop and spread more rapidly in persons with bullosa epidermolysis than in those without the disease.

Dominant subtype: Symptoms may include:

  • Blisters only on the hands, feet, elbows, and knees.
  • Change in shape of nails or nail loss.
  • Milia.
  • Blisters inside the mouth.

Kindler syndrome does not have any subtypes, and the blisters can form in all layers of the skin. The blisters usually appear on the hands and feet and, in severe cases, spread to other areas of the body, including the esophagus and bladder. Other symptoms include thin, wrinkled skin; scarring; milia; and sensitivity of the skin to sun damage.

Who Develops this disease?

  • Cicatricial alopecias affect healthy men and women of all ages although there is typically no primary scar alopecia in babies. Cicatricial alopecias happen all over the world. There were no epidemiological studies performed to assess the prevalence of cicatricial alopecia. They‘re not popular, in general.
  • A few cases of scar alopecia occurring within a family have been recorded. But most patients with scar alopecia do not have a family history of a similar disease. Central centrifugal alopecia most often affects African-born women and can occur in more than one member of the family. Dissecting cellulitis looks like scalp-involving deep cystic acne, and it occurs mainly in dark-skinned people. Although more than one type of hair loss disease may be present, non-scarring types of hair loss do not develop into scarring types of hair loss.

Causes:

Mutations (changes) to genes that you inherit from your parents cause most forms of epidermolysis bullosa. Genes carry information that determines which features are passed to you from your parents. We have two copies of most of our genes — one from each parent. People with the disease have one or more genes that carry the incorrect instructions to make certain proteins in the skin.

There are two types of inheritance patterns:

  • Dominant, which means you inherit one normal copy and one copy of the epidermolysis bullosa-causing gene. The abnormal gene copy is stronger or “dominant” over the normal gene copy which causes the disease. A person with a dominant mutation has a chance of passing the disorder on to each of his or her children by 50 percent (1 in 2).
  • Recessive, meaning your parents don’t have the disease because both parents have an irregular gene that causes bullosa epidermolysis. If both parents bear the recessive genes, the risk of having a child with the disorder is 25 per cent (1 out of 4) per pregnancy. There’s a 50 percent risk (2 out of 4) of having a child that inherits one rare recessive gene per birth, making them a carrier. When one parent has a gene mutation that is recessive, both of their offspring will have an irregular gene but do not necessarily have bullosa epidermolysis.

Researchers know that epidermolysis bullosa acquisita is an autoimmune disease, but they don’t know what causes a person’s skin to attack the collagen. People with autoimmune inflammatory bowel disease sometimes also develop Bullosa acquisita epidermolysis. Medications rarely cause illness.

How to diagnose:

Physicians usually diagnose epidermolysis bullosa by:

  • Asking about family and medical history, because most types of epidermolysis bullosa are inherited.
  • Completing a physical exam and closely examining the skin, which can help doctors identify where the skin is separating to form blisters.
  • Performing a skin biopsy and reviewing the tissue sample using special microscopic techniques, which helps doctors identify which layers of the skin are affected and determine the type of epidermolysis bullosa you have.
  • Ordering genetic testing to identify specifically which gene mutations you may have. This helps doctors diagnose the specific type and subtype of the disease. People who have genetic testing should see a specialist or genetic counsellor to help them understand the test results.

Treatment Options:

Epidermolysis bullosa has no cure. Treatment goals include preventing and controlling symptoms by:

Manage pain and itching.

To protect the skin and to care for blisters and wounds.

To treat and prevent infection.

To preserve or restore mobility.

Holding nutrition right.

  • Manage pain and itching:

Your doctor can prescribe a pain reliever to help relieve pain caused by blisters and to open skin or other areas of the body with wounds. Several forms of bullosa epidermolysis cause itching. Your doctor can prescribe medications to help manage itch to prevent scratching, which can cause delicate skin to break.

  • To protect the skin and to care for blisters and wounds:

Skincare is an important part of the treatment of bullosa epidermolysis. Because the blisters can be large, it is important to take care of the blisters and wounds to help prevent body fluid loss from the blister and prevent any wounds from infection.

Changing bandages is an important step towards protecting the skin and taking care of the blisters and wounds. Your health care team will give you guidance to change the bandages. Use non-adhesive bandages where feasible. Bandages still sometimes stick to the skin. When this occurs, your doctor can recommend that you soak the area in warm water to help loosen the bandages.

  • To treat and prevent infection:

Others may become sick with wounds and blisters. Your doctor may prescribe oral or topical antibiotics for treating an infection. Wounds that are not healing may require bandages or medicated coatings.

By remaining as safe as possible, you can help lessen the risk of contracting an infection by:

Wash your hands before performing skincare or removing dressings.

Applying topical antibiotic creams, as the doctor advises.

Staying safe by eating a balanced diet and following advice from your doctor. Even if you take precautions there may still be an infection. When you see any symptoms of infection, including increased redness, increased skin lesion pain, red streaks from wound or blister, pus, or fevers, please call your doctor immediately.

  • Holding nutrition right:

Some individuals with bullosa epidermolysis may have blisters in the mouth, oesophagus, and intestines, making it difficult to chew, swallow, and digest foods and beverages. Your health care provider may refer you to a dietitian to help identify nutritious and easy-to-eat recipes and foods. These possibilities may include:

  • Soft foods are easy to chew and to swallow.
  • Warm or cool foods; you should avoid the use of hot foods and beverages.
  • Foods which help avoid constipation or diarrhoea.
  • Some people may need additional treatments to treat epidermolysis bullosa problems and to correct them.
  • When you experience anaemia, your doctor can prescribe different therapies for complication management.
  • If scarring causes the body to narrow, such as the oesophagus or urinary tract, the operation can widen and open the passageways.
  • Those who don’t get proper nutrition can need surgery to install a tube that provides direct access to food to go into the stomach directly.
  • Some scarring may cause fingers or toes to fuse in. If this occurs, they will need to be surgically released.
  • To preserve or restore mobility:

Scarring may cause contractures (anomalous tightening and shortening of muscles, tendons or ligaments) for certain people. It can happen in your hands and feet and your ability to move or use those muscles is limited. An occupational or physical therapist can help improve, restore or maintain your ability to move.

Coping with Epidermolysis Bullosa:

Living with bullosa epidermolysis can be difficult; however, taking steps to care for your skin to help prevent the formation of blisters and getting help in coping can help.

To minimize friction, and to stop tears and blisters from forming, your health care team may recommend the following:

  • Keep your skin cool. Never apply anything hot to the skin, and avoid using water higher than your body temperature when bathing.
  • Wear loose-fitting, soft clothing to avoid rubbing against the skin or causing friction.
  • Avoid overheating by keeping rooms at a cool, even temperature.
  • Apply lotion to the skin to reduce friction and keep the skin moist.
  • Use sheepskin on car seats and other hard surfaces.
  • Wear mittens at bedtime to help prevent scratching while asleep.

It can be difficult to cope with epidermolysis bullosa. Finding a community or online support group might be helpful. Some people can find talking to a mental health professional about dealing with the illness to be beneficial.

References:

https://www.nhs.uk/conditions/epidermolysis-bullosa/

http://med.stanford.edu/dermatology/resources/gsdc/eb_clinic/eb-faqs.html

http://www.emedicine.com/DERM/topic124.htm

https://www.niams.nih.gov/health-topics/epidermolysis-bullosa/

By,

Gopala Krishna Varshith,

Content Developer & Editor,

Clipo.