Epidermolysis Bullosa

"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 likely wouldn't show any signs or symptoms. The defective genes normally promote the formation of anchoring filaments that attach the epidermis to the basement membrane. This defect leads to the separation of the epidermis and blistering in the top layer of the basement membrane. This form of EB is usually severe. It forms large ulcerated blisters on the face, trunk, and legs. JEB is also the most life-threatening due to severe infections, loss of fluids leading to dehydration, and large blisters affecting the esophagus, stomach, intestines, and the urogenital system. Signs of Junctional EB are extremely thin skin, loss of hair, blisters, malnutrition, anemia, growth retardation, and poorly formed tooth enamel.

Dystrophic EB (DEB) is the only form to occur both dominantly and recessively. This form effects the genes designed to produce type VII collagen which anchors the epidermis to the dermis. With dystrophic, the collagen filaments are either missing or nonfunctioning. Both the dominant and recessive forms of DEB have slightly different symptoms. The dominant form of dystrophic EB is milder. The blister form on the hands, feet, elbows, and knees. There is also usually no involvement if the soft tissues of the stomach or gastrointestinal tract. The recessive form is much more severe. It is characterized by blisters over the large body surfaces, loss of nails, atrophic scarring, milia, anemia, and growth retardation. Severe forms of recessive DEB can also lead to severe eye inflammation, erosion of the cornea, and early loss of teeth. Most people with RDEB the fingers and toes can fuse together, pseudosyndactyly. Finally, people with this recessive form are at extremely high risk for developing squamous cell carcinoma (skin cancer).

Diagnosis is done by a dermatologist.

Identification begins with identifying where the skin is separating and by doing a biopsy to determine what type of EB it is. The biopsy test uses a microscope and reflected light to see if proteins needed are present. Second test uses a high power electron microscope to identify structural defects in the skin. There are recent advancements allowing for prenatal diagnosis through amniocentesis