Epidermolysis Bullosa


What is Epidermolysis Bullosa?

Epidermolysis bullosa (EB) refers to some group of diseases which is very uncommon. This illness causes the skin to be delicate and easily wounded which later on results into blisters. These blisters may appear in any parts of the body and is noted to be usually seen on the hands, feet, and in worse cases it can be found on internal organs; like the lining of the mouth, stomach, esophagus, or respiratory tract.

epidermolysis bullosa


The blisters can also be due to minor injuries, friction from scratching or rubbing, and heat exposure. Almost all types of epidermolysis bullosa are inherited from family members and may not be recognized during infancy since the condition typically reveals when the child is a bit older.

Having a family history of the disease or even a single parent carrying it already, it is a risk factor. Both males and females are affected equally and some of these individuals do not experience any signs and symptoms until they have reached adolescence or early adulthood.


Symptoms of this condition may include; hair loss, breathing problems, blisters that had been present at birth, nail deformity or loss, pimples, tooth decay, and other blisters on the skin. Serious forms may also have acute complications and can be lethal.

Types of Epidermolysis Bullosa

Epidermolysis bullosa simplex (EBS)

This type of EB is not contagious nor is it an infection and it is also not caused by an allergy. EBS has other subtypes ranging from the mildest and most common to severe ones. These subtypes include:

Weber-Cockayne

It is the most common form that develops due to friction and is usually present in infants. Wounds leave no scar.

Koebner

Blisters in all areas of the body and is present during birth  or infancy that may involve nails and mucous membranes

Dowling Meara

This is an acute form of the disease EBS. Thickening of skin that may affect joint movements, nails and other organs are also affected. Extensive spread can cause death.

EB associated with muscular dystrophy

Epidermolysis bullosa acquisita (EBA)

This type of epidermolysis bullosa is a rare type of disease that usually presents as an obtained form of mechanobullous disorder. The stiff blisters develop at sites of trauma which are vulnerable to injury such as the hands, elbows, knees, feet, and buttocks. Other blisters of EBA can also form in the nose, eyes, and mouth. EBA contrasts EB since EBA is not genetically inherited and it commonly presents in adult life. EBA can often copy other inflammatory diseases that cause blisters like bullous pemphigoid.

Dystrophic epidermolysis bullosa or (DEB)

DEB is an infrequent skin disorder. Individuals with this condition are more vulnerable than usual. Small minor injuries cause blisters that frequently leave blemishes when they heal. DEB is still not contagious or an infection and it is divided into two subtypes:

Recessive DEB

This is accompanied with terrible blistering that is considered more common or lenient disease that includes mucous membranes and large areas of the skin. Severe complications are also present along with deformity and scarring after the blisters are healed.

Dominant DEB

Blisters acquired at birth, localised blisters, milia spots appear, and Bart syndrome.

How is Epidermolysis Bullosa Treated?

Epidermolysis bullosa has no remedy but mild forms of blisters might surpass with age. The treatment mainly focuses on the prevention of complications and easing the pain caused by the blisters. The illness frequently gets worse regardless of the treatment. Sometimes it may cause critical complications or even death. During the treatment process, a number of specialists are involved.

Treatments include:

Medications

These help itching, pain, and solving other complications like an infection in the bloodstream. If the infection had spread or the patient experiences symptoms such as weakness, lymph glands that are inflamed, and fever then prescribed oral antibiotics might be used. Another drug which is an anti-inflammatory drug can be taken orally to lessen the burden of swallowing.


Surgery

This method is done in order to improve a person’s ability to consume a healthy diet or amend a normal motion. The surgeries that can be done are:

  • The widening of the esophagus – The lesions and scars of the esophagus can cause difficulty in eating that’s why the surgery is done to make the food travel easily from the mouth to the stomach.
  • Grafting skin to treat wounds caused by the condition.
  • Restoring mobility – The physician will propose this surgery if there are any deformities that should be corrected.
  • Placing a feeding tube – This is to introduce food straight to the stomach to enhance nutrition.
  • Rehabilitation Therapy – This therapy is to for the improvement of the patient’s motion and contracture.

Life Expectancy and Prognosis

The life span of a patient with epidermolysis bullosa can be shortened from how severe the condition is that can really be scary. Mild forms of this illness improves as the person age while acute forms of epidermolysis bullosa have a great amount of death rate as early as infancy. This disease can have a great effect on the person’s quality of life since the symptoms are often hard to deal with as well.

Pictures

epidermolysis bullosa 2

epidermolysis bullosa images

epidermolysis bullosa pictures 4

epidermolysis bullosa pictures 5

epidermolysis bullosa pictures

References

  1. http://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/basics/definition/con-20032497
  2. http://www.dermnetnz.org/systemic/epidermolysis-bullosa.html
  3. https://www.nlm.nih.gov/medlineplus/ency/article/001457.htm
  4. Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H (2013) Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene. Pediatr Int 55(2):234-7
  5. Michelle Kerns et al. (2007-09-04). “Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex”. Proc Natl Acad Sci U S A. 104 (36): 14460–14465.
  6. Varki R, Sadowski S, Uitto J, Pfendner E (March 2007). “Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes”. J. Med. Genet. 44 (3): 181–92.

Leave a Reply

Your email address will not be published.