Epidermolysis Bullosa.

By: Whitney Clem.

Description.

Epidermolysis Bullosa is a group of rare diseases that can cause the skin to blister. The blisters may appear in response to minor injuries, heat, or even friction from rubbing, scratching, or adhesive tape. Some severe cases may occur inside the body, such as lining of intestines or even the mouth. Usually shows up during early childhood. Severe forms can cause serious complication and can be fatal.

Types of Epidermolysis Bullosa.

1. EB Simplex- This is the most common form. It usually begins at birth or in early infancy and affects mainly the soles of the feet and the palms.

In epidermolysis bullosa simplex, the gene that helps produce a fibrous protein (keratin) in the top layer of skin is faulty. The condition causes blistering in the epidermis. The blisters usually don't result in scars with this mild type.


2. Junctional EB- This type usually is severe and becomes apparent at birth. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.


3. Dystrophic EB-you may experience mild to severe signs and symptoms. It generally becomes apparent at birth or during early childhood.This condition is related to a flaw in the gene that helps produce a type of collagen. If this substance is missing or doesn't function, the layers of the skin won't join properly.This type can be either dominant or recessive.


4.Kindler Syndrome- This condition is called mixed type because blisters appear across the skin layers. The condition usually improves with time and can disappear. It is the only type that causes patchy discoloring (mottling) of skin exposed to the sun.Kindler syndrome is recessive.


5.Epidermolysis Bullosa Acquisita- rare type that isn't inherited. The blisters result from your immune system attacking healthy tissue by mistake.

Causes.

The causes of Epidermolysis Bullosa is the genes from the mother and the father get mixed up. Genetic mutation occurs when instructions carried in certain genes get mixed up

Symptoms.

Some people don't develop signs or symptoms until adolescence or early childhood.

Fluid-filled blusters, especially on the hands and feet due to friction.

Deformity or loss of fingernails or toenails.

The skin thickens on palms and soles of the feet.

Thin appearing skin.

Tiny white bumps or pimples.

Difficulty swallowing.

Statistics.

There is no cure or approved therapies for patients with EB, which affects approximately 20,000-30,000 patients in the U.S. and 300,000- 400,000 patients worldwide.

Possible Cures and Preventions.

The is actually no cure to this disease. While there is treatment for it. The treatment is more directed to the symptoms of the disease. Symptoms that they can treat is infection, itching, and prevention of pain such as in wounds.