Epidermolysis Bullosa Simplex (EB) is a group of hereditary epidermolysis bullosa disorders characterised by skin fragility resulting in skin blisters and erosions that occur either spontaneously or after physical trauma.
Onset is usually at or shortly after birth although the skin blistering may not occur until late childhood or early adulthood. In addition to the blisters and erosion, fingernail shedding, dystrophy (degeneration of tissue) and millia (commonly known as milk or oil spots on the skin) also occur. EBS does not cause long term scarring but does, however, in some cases cause thickening of the skin in the palms and soles. The mouth, vocal cords, oesophagus and upper airway are all highly susceptible to blistering. There may also be difficulty in swallowing.
Epidermolsis Bullosa is caused by mutations in a specific gene, namely the gene that produces keratin, a fibrous protein responsible for the construction of the outer layer of skin cells. Inheritance is either autosomal dominant (one parent passes it on) or autosomal recessive (both parents must possess it to pass it on).
EB has no cure, though mild forms may improve with age. Treatment focuses on addressing the symptoms — such as infection and itching — and preventing pain and wounds. Severe forms may cause serious complications and can be fatal.
Those at risk could incur complications such as
- Blistering skin is vulnerable to bacterial infection.
- Sepsis occurs when bacteria from a massive infection enter your bloodstream and spread throughout your body. Sepsis is a rapidly progressing, life-threatening condition that can cause shock and organ failure.
- Severe forms of EB can cause fusion of the fingers or toes and abnormal bending of joints.
- Malnutrition and anaemia. Blisters in the mouth can make eating difficult and lead to malnutrition. This may lead to anaemia (low iron levels in the blood), delayed wound healing or, in children, slowed growth.
- Large, open blisters can cause loss of body fluid that leads to severe dehydration.
- Difficulty passing stool may be due to painful blisters in the anal area. It can also be caused by not ingesting enough liquids or high-fiber foods, such as fruits and vegetables.
- Eye disorders. Inflammation of the eye can harm the clear covering over the eye (cornea) and, sometimes, cause blindness.
- Skin cancer. Adolescents and adults with certain types of EB are at high risk of developing a type of skin cancer known as squamous cell carcinoma.
- Infants with a severe form of junctional EB are at high risk of infections and loss of body fluids from widespread blistering. Their survival also may be threatened because of blistering, which may hamper their ability to eat and breathe. Many of these infants die in childhood.
Treating EB is only to alleviate the pain and discomfort of the individual with appropriate wound care and to limit the spread of any infection with antibiotics. In some cases, surgery would be required to restore motion and allow one to eat a healthy diet.
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