Pathophysiology[ edit ] This section needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the section and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. In individuals with healthy skin, there are protein anchors between these two layers that prevent them from moving independently from one another shearing.

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Basement membrane zone Open pop-up dialog box Close Basement membrane zone Basement membrane zone Depending on the type of epidermolysis bullosa, blistering may occur in the top layer of skin epidermis , the bottom layer dermis or the layer that separates the two basement membrane zone.

Autosomal dominant inheritance pattern Open pop-up dialog box Close Autosomal dominant inheritance pattern Autosomal dominant inheritance pattern In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes autosomes. You need only one mutated gene to be affected by this type of disorder. Autosomal recessive inheritance pattern Open pop-up dialog box Close Autosomal recessive inheritance pattern Autosomal recessive inheritance pattern To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.

These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition. Epidermolysis bullosa simplex Open pop-up dialog box Close Epidermolysis bullosa simplex Epidermolysis bullosa simplex Epidermolysis bullosa simplex usually becomes apparent at birth or during early infancy. Blistering may be relatively mild with epidermolysis bullosa simplex. Dystrophic epidermolysis bullosa Open pop-up dialog box Close Dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa generally becomes apparent at birth or during early childhood.

More severe forms of dystrophic epidermolysis bullosa can lead to rough, thickened skin, scarring, and disfigurement of the hands and feet. Epidermolysis bullosa is usually inherited. The disease gene may be passed on from one parent who has the disease autosomal dominant inheritance.

Or it may be passed on from both parents autosomal recessive inheritance or arise as a new mutation in the affected person that can be passed on. The skin is made up of an outer layer epidermis and an underlying layer dermis. The area where the layers meet is called the basement membrane.

The various types of epidermolysis bullosa are largely defined by which layer the blisters form in. The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex. This is the most common form. It develops in the outer layer of skin and mainly affects the palms and the feet. The blisters usually heal without scarring. Junctional epidermolysis bullosa. This type may be severe, with blisters beginning in infancy. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.

Dystrophic epidermolysis bullosa. This type is related to a flaw in the gene that helps produce a type of collagen that provides strength to the pig-skinlike dermis layer of the skin. Risk factors Having a family history of epidermolysis bullosa is the major risk factor for developing the disorder. Complications Complications of epidermolysis bullosa may include: Infection. Blistering skin is vulnerable to bacterial infection.

Sepsis occurs when bacteria from a massive infection enter the bloodstream and spread throughout the body. Sepsis is a rapidly progressing, life-threatening condition that can cause shock and organ failure. Fusion of fingers and changes in the joints. Severe forms of epidermolysis bullosa can cause fusion of fingers or toes and abnormal bending of joints contractures.

This can affect the function of the fingers, knees and elbows. Problems with nutrition. Blisters in the mouth can make eating difficult and lead to malnutrition and anemia such as low iron levels in the blood.

Problems with nutrition can also cause delayed wound healing and, in children, slowed growth. 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. Dental problems. Tooth decay and problems with tissues inside the mouth are common with some types of epidermolysis bullosa.

Skin cancer. Adolescents and adults with certain types of epidermolysis bullosa are at high risk of developing a type of skin cancer known as squamous cell carcinoma. Infants with a severe form of junctional epidermolysis bullosa 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. But you can take steps to help prevent blisters and infection. Handle your child gently. Your infant or child needs cuddling, but be very gentle.

To pick up your child, place him or her on soft material, such as cotton, and support under the buttocks and behind the neck. Take special care with the diaper area. If your child wears diapers, remove the elastic bands and avoid cleansing wipes.

Line the diaper with a nonstick dressing or spread it with a thick layer of zinc oxide paste. Keep the home environment cool. Set your thermostat so that your home remains cool and the temperature remains steady. Keep the skin moist. Gently apply lubricants, such as petroleum jelly. Dress your child in soft clothes. It may help to remove labels and put clothing on seam-side out to minimize scratching.

Try sewing foam pads into the lining of clothing by elbows, knees and other pressure points. Use soft special shoes, if possible. Prevent scratching. Consider putting mittens on him or her at bedtime to help prevent scratching and infection. Encourage your child to be active. Swimming is a good option. For children with mild forms of epidermolysis bullosa, they can protect their skin by wearing long pants and sleeves for outdoor activities.

Cover hard surfaces. For example, place sheepskin on car seats and line the bathing tub with a thick towel.


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