Epidermolysis Bullosa

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  • Topic: Epidermolysis bullosa, Skin, Mutation
  • Pages : 6 (1707 words )
  • Download(s) : 882
  • Published : October 14, 2006
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"One day without crying, one day with no pain
One day of not suffering those blisters again.
One day with no dressings, or needles or creams
One day you'll awaken with laughter not screams.
One day of not fearing the slightest tumble
And to watch you join in with your friends rough-and-tumble. One day of not feeling great surges of guilt
For the genes that I gave you, imperfectly built.
One day of not having to turn a blind eye
To the ignorant stares of some passersby.
One day, in the future, a potion they'll issue
To toughen your skin that's as strong as wet tissue.
One day a complexion of peaches and cream
Will become a reality, not just a dream.
One day without crying, one day with no pain,
One day of not suffering those blisters again.
. . . one day"

This poem was published in the D.E.B.R.A. U.K. Autumn 1996 Newsletter. The poem was written by an anonymous mother of a child with Epidermolysis bullosa. This simple but well written poem conveys just some of the many emotions of what parents experience during the time coping with having a child that is cursed with this rare skin disease. Even though this is a rare disease there is a tremendous amount of knowledge pertaining to it and many researchers looking for a cure. This paper will cover a broad range of topics relating to Epidermolysis bullosa: what it is, who gets it, what causes it and what are the symptoms, how it's detected, how it's treated, how it can be prevented, and finally, what is the current research being done.

So just what is Epidermolysis bullosa? The skin is made up of many layers. The outer layer is called the epidermis while the inner layers are called the dermis. Bullosa means blister and lysis mean breakdown. Therefore Epidermolysis Bullosa means the breakdown and blistering of the skin. Epidermolysis bullosa, EB, is a group of inherited genetic skin disorders characterized by extremely fragile skin and formation of blisters. The blisters are not confined only to the skin but also can develop internally on the lining of the mouth, esophagus, stomach, intestines, upper airway, bladder, and the genitals. Based upon what layer of skin that is affected, EB is subdivided into three major types: Simplex, Junctional, and Dystrophic. These divisions are also divided into many subtypes. There is also one form of acquired autoimmune bullosa known as EB Aquisita, that there is little knowledge about this form. However, we will focus on the inherited forms, of which range from mild to severe.

Epidermolysis bullosa is an inherited condition. There is no predominant race or sex with a prevalence of EB. In many circumstances the disease becomes apparent between birth and early childhood. In rare situations, mild EB isn't diagnosed until an adolescent engages in vigorous activity. EB is primarily only transmitted through faulty genes received from either one or both parents. Currently there are more than ten genes known to be predeterminants for the different types of EB.

The Simplex form of Epidermolysis bullosa (EBS) is the only form to affect the top layer of skin, the epidermis. EB Simplex is usually inherited as an autosomal dominant disease. The faulty genes, that cause simplex, are supposed to provide instructions for the production of keratin in the top layer of epidermis. With this flawed genes, the skin splits open on the top layer, producing a blister. EBS can is a more generalized form of EB, affecting mainly localized areas. Weber-Cockayne EBS (localized EBS) rarely extends beyond the feet and hands. Signs are often the thickened rough skin on the palms of the hands and the soles of the feet, the absent of finger and toe nails, and finally, the blistering on the feet and hands.

With Junctional Epidermolysis bullosa (JEB), the basement membrane zone of the skin is affected. This form of EB is only inherited as a defect in recessive genes from both parents. In these cases, the parents most...
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