Epidermolysis bullosa

Epidermolysis bullosa refers to a group of disorders that is inherited. It leads to blister formation and physical trauma. It is caused by mutations in 14 genes giving birth to other major diseases and risks for more complications or premature death. It is a chronic and autoimmune blistering disorder of the skin and the mucous membranes and also causes scars and milia. It is a rare and not a uniform disease varying in severity. Many patients with mild forms remain mostly undiagnosed. It affects one in 17,000 births and around 5,000 patients in the United Kingdom. It has been dominant among the Scottish population with around 68% having inherited EB, and 19% with uncertain inheritance.

The disease varies from mild to severe and even fatal. It can be classified into four main categories, namely:

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  1. Epidermolysis bullosa simplex (EBS) where there is an intra-epidermal skin separation.
  2. Junctional epidermolysis bullosa (JEB) in which the skin gets separated in the lamina lucida or the main membrane zone
  3. Dystrophic epidermolysis bullosa (DEB) in which there is separation of the membrane zone at the sublamina densa.
  4. Hemidesmosomal epidermolysis bullosa (HEB), in which there is blistering at the hemidesmosomal level in the most important part of the basement membrane zone.

Symptoms

  • Blisters affecting the skin and conjunctival, oral, as well as genital mucosa and splitting of the lesions.
  • Crusted erosions caused by the blisters that might get worse under pressure.
  • Severe intralamina lucida blisters that heal with scarring and are mostly found on nails, hair and teeth.
  • Blisters caused by a traumatic event. Can be mild or severe usually occurring on the palms or soles.
  • When the disease is diagnosed at birth there are blisters with erosions around the mouth, eyes, or nostril along with major hypertrophic granulation of tissues.
  • Cough, respiratory problems, and experience of hoarse cry due to internal complications.
  • Chances of death due to sepsis and other complications due to problems such as epithelial dysfunction where one can even die in infancy.
  • Scalp, nail, and tooth abnormalities.
  • Mucous membranes produce strictures due to erosions.
  • The symptoms get worse in a hot atmosphere.
  • Ulcers and scarring in the cornea, eyelid lesions and obliteration of tear ducts.

Causes

  1. A positive family history is the most common cause of this disease and increases the chances but it depends on the kind of inheritance and the proximity of affected ones.
  2. Extracutaneous and multi organ system involvement.
  3. Delayed growth of the body, gastrointestinal abnormalities and esophageal strictures.
  4. Urological abnormalities.

Treatment

  • So far, there has not been a proper cure for this disease but a lot of attention has been paid to cure the symptoms and promote healing.
  • Preventing any kind of trauma to the skin can prevent blisters too.
  • It is more important to treat the infections first.
  • A lot of times one gets some relief from Steroids but it must be avoided.
  • Taking care of the wound is also very important. One should not allow fluids and crusts to build up, as they increase the chances of infection.
  • Topical antibiotics can also be used and adhesive tapes must be avoided.
  • Taking care of the chronic lesions is extremely essential and if ignored can damage cell carcinoma mostly at multiple sites for which Surgical intervention might be required. In these cases the lesions can turn aggressive.
  • The most problematic treatment is for the Oesophageal lesions. One of the solutions is using phenytoin and oral steroid elixirs that help to reduce the symptoms of dysphagia, however steroids are mostly avoided. In case of oral candidacies, a proper antifungal medication is pretty much effective. Oesophageal dilatation can also be used.
  • For the corneal erosions one can be prescribed antibiotic ointment heal ciliary spasm and prevent further discomfort.
  • For infants and children elective tracheostomy can be considered, especially in case of rare subtypes.
  • Regular dental checks and hygiene is very essential. A lot of patients can also get dental caries. One must also avoid strong mouthwashes that contain alcohol. Instead normal saline rinses can be used.
  • In case of deformity one might require surgical intervention.
  • Since the skin experiences severe damages it’s important to have a high calorie diet that’s rich in proteins and vitamins.  is required.
  • Genetic counseling and prenatal testing is also an option and can be done with a skin biopsy and chorionic villus sampling.

Epidermolysis bullosa Life expectancy

Epidermolysis bullosa is one of the most lethal skin diseases and its affect on the quality of life cannot be ignored. Death and disability are highly common according to the type. Death in infancy can also occur due to infection. In cases where there are more complications skin cancer is also possible and can cause death, especially between the ages of 15 and 35. In junctional epidermolysis bullosa (JEB), almost 90% patients die in the first year of life due to sepsis, and respiratory disorders. On the other hand milder EB forms, get better with age.

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