Epidermolysis Bullosa

Topics: Squamous cell carcinoma, Epidermolysis bullosa, Collagen Pages: 3 (788 words) Published: April 11, 2012
Samuel Brachie

Epidermolysis Bullosa - is a group of inherited disorders in which skin blisters develop in response to minor injury. This condition is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene. People with this condition have an increased risk of cancers of the skin, and many will eventually be diagnosed with it as a complication of the chronic damage done to the skin. (www.wikipedia.com) There are four main types of epidermolysis bullosa:

* Dystrophic epidermolysis bullosa
* Epidermolysis bullosa simplex
* Hemidesmosomal epidermolysis bullosa
* Junctional epidermolysis bullosa
Symptoms depend on the type of epidermolysis bullosa, but can include: ( * Alopecia (hair loss)
* Blisters aound the eyes and nose
* Blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty * Blisters on the skin as a result of minor injury or temperature change * Blistering that is present at birth

* Dental problems such as tooth decay
* Hoarse cry, cough, or other breathing problems
* Milia (tiny white bumps or pimples)
* Nail loss or deformed nails
Signs and tests
A skin biopsy, genetic testing, and special microscopic tests of skin samples are needed to confirm the diagnosis. Immunofluorescent tests or electron microscopy is usually done on skin biopsies. Growth curves will be carefully watched in an infant who has, or is believed to have epidermolysis bullosa. If there are contractures, limb range of motion will be tested. Treatment

* Removal of any squamous cell carcinoma that develops * Proper nutrition is also important. When there is a lot of skin injury, you may need extra calories and protein to help recovery. Work closely with a nutritionist. When there are blisters or...
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