Epidermolysis Bullosa

What Is Epidermolysis Bullosa?

Epidermolysis bullosa is a class of rare skin diseases, which cause blistering of the skin. These blisters occur in response to heat, small injury, friction occurring from scratching, rubbing or use of adhesive tape. In severe cases, the blisters can appear inside the body, such as the lining of the intestines, mouth etc. Majority of the types of epidermolysis bullosa are hereditary. The condition often presents itself in infancy or early childhood. There are some patients who do not experience signs and symptoms of this disorder until they have reached adolescence or are in early adulthood. Severe forms of this disease can cause serious complications and prove to be fatal.

Unfortunately, there is no cure for Epidermolysis Bullosa. The mild forms of this disease can improve with age. The main aim of treatment is to alleviate symptoms like itching and infection, and to prevent pain, wounds and severe complications in the patient.

Causes & Risk Factors Of Epidermolysis Bullosa

Epidermolysis bullosa is usually inherited. According to research, there are more than a dozen genes which are involved with skin formation and if any of these genes are defective, then it may cause epidermolysis bullosa. Patients who have a family history of epidermolysis bullosa will be at an increased risk for developing this disorder, as family history is the primary risk factor in this condition.

Epidermolysis Bullosa

Classification & Types Of Epidermolysis Bullosa

  • Epidermolysis Bullosa Simplex: This form is the most common one and usually starts at birth or from early infancy. This type primarily affects the palms and the soles of the feet. In this type, the gene which produces keratin in the uppermost layer of skin is defective resulting in formation of blisters in the epidermis. This is a mild type and the blisters generally do not cause scars.
  • Junctional Epidermolysis Bullosa: This is a severe form of the disease and is visible at birth. A baby having this condition can have a hoarse-sounding cry from persistent blistering and scarring of the vocal cords. The genes which form fibrils, which help in connecting the epidermis to the basement membrane, are defective. This faulty gene causes the tissues to separate and form blisters in the deeper layers of the skin.
  • Dystrophic Epidermolysis Bullosa: In this type, patient can experience mild to severe symptoms which usually are apparent at birth or in early childhood. The faulty gene is the one which helps in producing a type of collagen. If there is any defect in this process, the layers of the skin won't properly join together. Dystrophic Epidermolysis Bullosa can be either recessive or dominant.
  • Kindler Syndrome: This is a rare type of this disease and commonly is seen at birth or very soon after. Kindler Syndrome is a mixed type, as the blisters form across the different skin layers. This type gets better as time passes by and can even disappear. Kindler Syndrome is the only type which produces patchy discoloring or mottling of the skin upon sun exposure. Kindler syndrome is recessive.
  • Epidermolysis Bullosa Acquisita: This is a rare type of the disease and is not inherited. The blisters are formed as a result of the body's own immune system mistakenly attacking the healthy tissue. This type resembles another immune system disorder which is known as Bullous Pemphigoid, which also causes blistering on the hands, feet and mucous membranes.

Signs & Symptoms Of Epidermolysis Bullosa

  • Appearance of blisters which are filled with fluid on the skin, particularly the hands and feet from friction.
  • Patient will have deformity or loss of fingernails and toenails.
  • Internal blistering can also occur, such as on the vocal cords, mucous membranes or inner lining of the upper airway and esophagus.
  • Blistering of the scalp with scarring and hair loss, also known as scarring alopecia.
  • Thickening of the skin on the palms and the soles of the feet.
  • Thinning and atrophy of the skin (atrophic scarring).
  • Appearance of milia on the skin which are tiny white skin bumps/ pimples.
  • Poorly formed enamel, which causes dental problems, such as tooth decaying.
  • Dysphagia (difficulty in swallowing).
  • Serious symptoms, which need immediate medical attention, are: Difficulty in breathing, difficulty in swallowing, signs of infection, such as painful, warm, red, swollen skin with pus oozing or foul smell emanating from a sore along with fever or chills.

Investigations For Epidermolysis Bullosa

  • Biopsy of the skin is done for immunofluorescent mapping. In this procedure, a small part of the affected skin is removed and sent to laboratory for identification of the skin layer and proteins which are involved.
  • Genetic testing is expensive but can help in confirming the diagnosis, as majority of the Epidermolysis Bullosa forms are inherited. In this test, a small blood sample is taken and sent to the laboratory for analysis.
  • Prenatal testing and genetic counseling should be undertaken by those patients who have a family history of epidermolysis bullosa.

Treatment For Epidermolysis Bullosa

Treatment of epidermolysis bullosa focuses on alleviating and managing the symptoms, preventing complications and relieving the blister pain with proper wound care. However, Epidermolysis Bullosa tends to progress in spite of the treatment and can also lead to serious complications and prove to be very fatal. Physicians and other members of medical team required in taking care of this condition including wound care comprise of: Primary care physician, wound care physician, nurses, physical therapist, occupational therapist, nutritionist and a social worker. Other specialists, which need to take care of the patient include: A surgeon, a dermatologist, an ophthalmologist, a psychologist, a dentist and a geneticist.

Epidermolysis Bullosa Treatment Comprises Of:

  • Analgesics or pain killers help in controlling the pain.
  • Topical medications are given for itching.
  • Antibiotics are prescribed if the patient develops signs of infection or sepsis, such as weakness, fever, chills, swollen lymph glands etc.
  • Oral steroids are also prescribed to decrease the inflammation, reduce the pain and ease the dysphagia.
  • Surgery is done in severe cases where the patient's ability to eat a healthy diet and for correcting or improving normal motion.
  • Persistent or repetitive blistering and scarring causes deformities, such as fusing of the fingers or toes or contractures, which is abnormal bending or crookedness in the joints. Surgery can be done to correct these problems, especially if they are affecting patient's quality of life.
  • Blistering and scarring of the esophagus causes narrowing of the esophagus, which makes it difficult to eat. So, surgery is done to widen the esophagus, thus making it easier for the food to pass from the mouth to the stomach.
  • To enhance nutrition and help with weight gain, a feeding tube is placed (gastrostomy tube) to deliver the food directly to the stomach.
  • Skin grafting is also done for treating the wounds from Epidermolysis Bullosa.
  • Patient can benefit from enrolling into rehabilitation program where a physical therapist and an occupational therapist can help with the body movements. Swimming is also beneficial in preserving or restoring mobility.
  • Treatments which are still under investigation include gene therapy, bone marrow transplantation, cell-based therapies and protein replacement therapies

Home Remedies & Lifestyle Modifications for Epidermolysis Bullosa

Proper nutrition and appropriate wound care and are important in patients with Epidermolysis Bullosa. Blisters can cause infection, scarring and deformity. So, it is important to take proper care of the blisters and work on ways to prevent formation of new blisters. Blisters should not be left intact, as they grow in size and lead to formation of a bigger wound when they eventually break. It is important to take proper precautions before breaking and draining the blisters. The following things can be done when tending to the blisters and wounds:

  • Always, always wash your hands before touching the blisters or changing the dressings.
  • If the dressing has become soiled and sticks to the wound, then do not pull it, instead soak that region in warm water till the dressing loosens and comes off easily.
  • OTC oral or topical pain medications can be used.
  • Patients should try and relax and keep themselves busy.
  • Biofeedback, cooling and vibration are beneficial.
  • Prescription-strength pain medications can be taken half-an-hour before a dressing change or other such painful procedures.
  • The skin should be cleaned daily by soaking the wound in a solution of salt and water for around 5 to 10 minutes.
  • Other than salt water, the wound can be cleansed with a mild solution of diluted vinegar.
  • Soaking the wound for some minutes helps in reducing the pain caused by changing the dressings.
  • The wounds should be rinsed with lukewarm water.
  • Puncturing the blisters will prevent them from spreading. New blisters should be punctured in two spots with the help of a sterile needle. Always leave the blister roof intact, so that the blister continues to drain and the underlying skin is kept protected.
  • Topical antibiotics, moisturizing creams or petroleum jelly can be applied and the area should be covered with a special non-sticking bandage.
  • The type of topical antibiotics used should be changed every month.
  • The blistered hands and feet should be wrapped daily. It can help in preventing deformities and fusion of the fingers and toes.
  • Oral gel can be applied to the blisters in the mouth to help relieve the pain.
  • Children should be given soft, nutritious foods like soup and smoothies, which are easy to swallow. Solid foods can be pureed with milk or broth and given to the patient.
  • Always serve beverages and food at lukewarm, room temperature or cold. Never serve them hot.
  • Vitamin supplements should be taken to minimize nutritional deficiencies.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 23, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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