Epidermolysis Bullosa Research Paper
Epidermolysis Bullosa
2012- 2013
Overview of the disease
Epidermolysis bullosa is a distressing and painful genetic skin condition[1]. This is a rare inherited condition commonly known as Butterfly disease in Children[2]. This causes the skin layers and internal body linings to blister. There are three major forms and at least 16 to 20 subtypes which can range in severity from mild blistering to more disfiguring and life-threatening disease. Many cases of epidermolysis bullosa are often not accurately diagnosed and thus, are not reported[3].
Symptoms
The First symptoms of Epidermolysis bullosa (EB) usually shows in infancy. All forms of EB result in fluid-filled blistering and wounding of the skin. How mild/severe symptoms are depend on the type of EB. The skin blisters are in mild cases of the disease localised to specific parts of the body(e.g. palms of the hands) and heal without permanent scarring[4].More severe forms of EB can cause: blistering over large areas leading to scaring,
Skin thickening on palms and soles of the feet
Internal blistering causing swallowing difficulty, deformity of the fingernails and in the worst cases fusion of the fingers and toes[5]
Cause
There are 3 major types EB Simplex, Junctional EB and Dystrophic EB based on which layer of the epidermis separates from the deeper dermis …show more content…
layer of the skin below [6].
EB, in the most cases is an inherited genetic disorder. Mutated Genes associated with the skin called collagens, keratins and intergrins cause EB. These genes encode several different proteins which are important for the structural stability of the skin.
EB is also referred as “being dominant, recessive or sporadic”.
EB Simplex is inherited in a dominant manner which mean that its caused by a faulty copy of a keratin gene from one parent who generally also has EB
Junctional EB
Is inherited in recessive manner which mean that both parents pass a faulty copy of the Collagen or the Intergin genes to the child but neither parent has the condition.
Dystrophic EB
Can be either dominant or recessive and are caused by mutation in the collagen gene 7A1.This form is usually severe and cause scarring
Sometimes EB is caused by new mutations in the child 's DNA. Such cases are referred as “sporadic or random” [7].
.
Incidence
It is unclear from the document reviewed what the exact occurrence of the disease is. EB when in a mild condition is often not reported or inaccurately diagnosed [10]. This makes it hard to determine exact incidence. Some sources claim a 1 in 50000[11] while others claim 1 in 100000[12]. These figures make EB a rare disease.
Treatment
There is currently no cure for epidermolysis bullosa however a number of projects, such as those by the organisation DEBRA Ireland, are researching more effective treatments and cures.
The main forms of treatment are aimed at the prevention of complications and easing the discomfort of blisters. The level of treatment depends on the type and severity of the EB which is determined by examining a small sample of skin under a microscope. Different examples of treatments include puncturing blisters with a sterile needle, applying an antibiotic cream to the blister and then covering with a non-stick bandage or disinfecting the wound
[13].
Emerging Treatment
Research in recent years has managed to identify the genes associated with some forms of the illness, but others remain to be identified.Recent experimental study lead by Dr.Lane investigates feasibility of gene therapy in patients with recessive EB [14].
References
[1] Debra Ireland Article http://www.debraireland.org/about-eb/eb-qanda (reviewed 20 Dec 2012)
[2] http://www.irishhealth.com/article.html?id=1714 (reviewed 20 Dec 2012)
[3] http://medical-dictionary.thefreedictionary.com/Butterfly+Disease (reviewed 20 Dec 2012)
[4] http://www.irishhealth.com/article.html?id=1714 (reviewed 20 Dec 2012)
[5] http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015/DSECTION=symptoms (reviewed 20 Dec 2012)
[6] http://www.debraireland.org/about-eb/eb-qanda (reviewed 20 Dec 2012)
[7] http://www.debraireland.org/about-eb/eb-subtypes (reviewed 20 Dec 2012)
[10] http://medical-dictionary.thefreedictionary.com/Butterfly+Disease (reviewed 20 Dec 2012)
[11] http://www.debra.org/faq (reviewed 20 Dec 2012)
[12] http://medical-dictionary.thefreedictionary.com/Butterfly+Disease, Central Europe draw up rare diseases battleplan by AFP / AFP Global Edition, All aflutter: the flap over the mail order butterfly industry by Federman, Adam / Earth Island Journal (reviewed 20 Dec 2012)
[13] http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015/DSECTION=treatments-and-drugs (reviewed 21 Dec 2012)
[14] http://www.modernmedicine.com/modernmedicine/Modern+Medicine+Now/Researchers-meet-milestone-in-developing-epidermol/ArticleStandard/Article/detail/749271?ref=25 (reviewed 21 Dec 2012)
2012- 2013
Overview of the disease
Epidermolysis bullosa is a distressing and painful genetic skin condition[1]. This is a rare inherited condition commonly known as Butterfly disease in Children[2]. This causes the skin layers and internal body linings to blister. There are three major forms and at least 16 to 20 subtypes which can range in severity from mild blistering to more disfiguring and life-threatening disease. Many cases of epidermolysis bullosa are often not accurately diagnosed and thus, are not reported[3].
Symptoms
The First symptoms of Epidermolysis bullosa (EB) usually shows in infancy. All forms of EB result in fluid-filled blistering and wounding of the skin. How mild/severe symptoms are depend on the type of EB. The skin blisters are in mild cases of the disease localised to specific parts of the body(e.g. palms of the hands) and heal without permanent scarring[4].More severe forms of EB can cause: blistering over large areas leading to scaring,
Skin thickening on palms and soles of the feet
Internal blistering causing swallowing difficulty, deformity of the fingernails and in the worst cases fusion of the fingers and toes[5]
Cause
There are 3 major types EB Simplex, Junctional EB and Dystrophic EB based on which layer of the epidermis separates from the deeper dermis …show more content…
layer of the skin below [6].
EB, in the most cases is an inherited genetic disorder. Mutated Genes associated with the skin called collagens, keratins and intergrins cause EB. These genes encode several different proteins which are important for the structural stability of the skin.
EB is also referred as “being dominant, recessive or sporadic”.
EB Simplex is inherited in a dominant manner which mean that its caused by a faulty copy of a keratin gene from one parent who generally also has EB
Junctional EB
Is inherited in recessive manner which mean that both parents pass a faulty copy of the Collagen or the Intergin genes to the child but neither parent has the condition.
Dystrophic EB
Can be either dominant or recessive and are caused by mutation in the collagen gene 7A1.This form is usually severe and cause scarring
Sometimes EB is caused by new mutations in the child 's DNA. Such cases are referred as “sporadic or random” [7].
.
Incidence
It is unclear from the document reviewed what the exact occurrence of the disease is. EB when in a mild condition is often not reported or inaccurately diagnosed [10]. This makes it hard to determine exact incidence. Some sources claim a 1 in 50000[11] while others claim 1 in 100000[12]. These figures make EB a rare disease.
Treatment
There is currently no cure for epidermolysis bullosa however a number of projects, such as those by the organisation DEBRA Ireland, are researching more effective treatments and cures.
The main forms of treatment are aimed at the prevention of complications and easing the discomfort of blisters. The level of treatment depends on the type and severity of the EB which is determined by examining a small sample of skin under a microscope. Different examples of treatments include puncturing blisters with a sterile needle, applying an antibiotic cream to the blister and then covering with a non-stick bandage or disinfecting the wound
[13].
Emerging Treatment
Research in recent years has managed to identify the genes associated with some forms of the illness, but others remain to be identified.Recent experimental study lead by Dr.Lane investigates feasibility of gene therapy in patients with recessive EB [14].
References
[1] Debra Ireland Article http://www.debraireland.org/about-eb/eb-qanda (reviewed 20 Dec 2012)
[2] http://www.irishhealth.com/article.html?id=1714 (reviewed 20 Dec 2012)
[3] http://medical-dictionary.thefreedictionary.com/Butterfly+Disease (reviewed 20 Dec 2012)
[4] http://www.irishhealth.com/article.html?id=1714 (reviewed 20 Dec 2012)
[5] http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015/DSECTION=symptoms (reviewed 20 Dec 2012)
[6] http://www.debraireland.org/about-eb/eb-qanda (reviewed 20 Dec 2012)
[7] http://www.debraireland.org/about-eb/eb-subtypes (reviewed 20 Dec 2012)
[10] http://medical-dictionary.thefreedictionary.com/Butterfly+Disease (reviewed 20 Dec 2012)
[11] http://www.debra.org/faq (reviewed 20 Dec 2012)
[12] http://medical-dictionary.thefreedictionary.com/Butterfly+Disease, Central Europe draw up rare diseases battleplan by AFP / AFP Global Edition, All aflutter: the flap over the mail order butterfly industry by Federman, Adam / Earth Island Journal (reviewed 20 Dec 2012)
[13] http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015/DSECTION=treatments-and-drugs (reviewed 21 Dec 2012)
[14] http://www.modernmedicine.com/modernmedicine/Modern+Medicine+Now/Researchers-meet-milestone-in-developing-epidermol/ArticleStandard/Article/detail/749271?ref=25 (reviewed 21 Dec 2012)