Epidermolysis Bullosa Research Paper
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 …show more content…
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 …show more content…
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 complications in the mouth or esophagus, avoid eating hard or brittle foods such as pretzels, nuts, and chips. Eating soft foods can help prevent making the sores worse * To prevent infection take very good care of the skin, especially if any blistered areas become crusted or exposed (raw). Follow your health care provider's instructions closely. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use. * Good dental hygiene is very important, including regular dental visits. It is best to see a dentist who has experience treating people with epidermolysis bullosa. (www.answers.com)
Complications * Anemia * Death (junctional epidermolysis bullosis has a high death rate, but other, milder forms may not reduce life expectancy at all) * Esophageal stricture * Eye disorders, including blindness * Infection, including sepsis * Loss of function in the hands and feet * Muscular
dystrophy * Periodontal disease * Severe malnutrition caused by feeding difficulty, leading to failure to thrive * Squamous cell skin cancer
Prevention
* Genetic counseling is recommended for prospective parents with a family history of any form of epidermolysis bullosa * To prevent skin trauma and blistering, it may help to wear padding around trauma-prone areas such as the elbows, knees, ankles, and buttocks. Contact sports should be avoided. * During pregnancy, chorionic villus sampling to test the fetus is available. For couples at high risk of having a child with epidermolysis bullosa, the test can be done as early as week 8-10 of pregnancy. Speak with your obstetrician and genetic counselor.
The condition was brought to public attention in the UK through the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of Jonny Kennedy, an English man with EB. In the United States, the same could be said of the powerful HBO documentary My Flesh and Blood from 2003.
"Butterfly Children" is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly’s wings. Children with the condition have also been described as "Cotton Wool Babies," and in South America, "Crystal Skin Children" is the term used. (www.niams.nih.gov)
What Research Is Being Conducted on Epidermolysis Bullosa?
Current research on EB focuses on: * Genes involved in EB * Ways to correct genes related to EB * Better ways to heal blister wounds * Improved bandages for blister wounds.
Surgery
Surgical treatment may be necessary in some forms of EB. * If your esophagus has narrowed because of scarring, your doctor may suggest surgery to enlarge the esophagus so that food can travel from your mouth to your stomach. * If you are unable to eat, your doctor may suggest a feeding tube so that food can be delivered directly to your stomach. * If blisters have caused your fingers or toes to fuse together, your doctor may suggest surgery to separate them.
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 …show more content…
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 …show more content…
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 complications in the mouth or esophagus, avoid eating hard or brittle foods such as pretzels, nuts, and chips. Eating soft foods can help prevent making the sores worse * To prevent infection take very good care of the skin, especially if any blistered areas become crusted or exposed (raw). Follow your health care provider's instructions closely. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use. * Good dental hygiene is very important, including regular dental visits. It is best to see a dentist who has experience treating people with epidermolysis bullosa. (www.answers.com)
Complications * Anemia * Death (junctional epidermolysis bullosis has a high death rate, but other, milder forms may not reduce life expectancy at all) * Esophageal stricture * Eye disorders, including blindness * Infection, including sepsis * Loss of function in the hands and feet * Muscular
dystrophy * Periodontal disease * Severe malnutrition caused by feeding difficulty, leading to failure to thrive * Squamous cell skin cancer
Prevention
* Genetic counseling is recommended for prospective parents with a family history of any form of epidermolysis bullosa * To prevent skin trauma and blistering, it may help to wear padding around trauma-prone areas such as the elbows, knees, ankles, and buttocks. Contact sports should be avoided. * During pregnancy, chorionic villus sampling to test the fetus is available. For couples at high risk of having a child with epidermolysis bullosa, the test can be done as early as week 8-10 of pregnancy. Speak with your obstetrician and genetic counselor.
The condition was brought to public attention in the UK through the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of Jonny Kennedy, an English man with EB. In the United States, the same could be said of the powerful HBO documentary My Flesh and Blood from 2003.
"Butterfly Children" is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly’s wings. Children with the condition have also been described as "Cotton Wool Babies," and in South America, "Crystal Skin Children" is the term used. (www.niams.nih.gov)
What Research Is Being Conducted on Epidermolysis Bullosa?
Current research on EB focuses on: * Genes involved in EB * Ways to correct genes related to EB * Better ways to heal blister wounds * Improved bandages for blister wounds.
Surgery
Surgical treatment may be necessary in some forms of EB. * If your esophagus has narrowed because of scarring, your doctor may suggest surgery to enlarge the esophagus so that food can travel from your mouth to your stomach. * If you are unable to eat, your doctor may suggest a feeding tube so that food can be delivered directly to your stomach. * If blisters have caused your fingers or toes to fuse together, your doctor may suggest surgery to separate them.