Epidermolysis Bullosa, also known as simply “EB”, is a term for a group of inherited disorders of skin manifested by fragility and the formation of blisters at site of mechanical trauma. It is caused by defects in any one of the genes that code for critical skin proteins.
A number of different types of proteins, including collagen and keratin, are woven together to give skin its remarkably tough, yet flexible, properties. When any one of these proteins is bad, the weave is no good and the skin can literally fall apart with the slightest touch, causing painful blistering.
There is a great range of severity depending of the type of EB, from occasional blisters that cause no appreciable disability to widespread blister formation with severe scarring, marked erosions, and contractures. In severe forms, lesions occur on any mucosal surface, including the mouth, gastrointestinal tract, and trachea, causing malnutrition, anemia and respiratory compromise.
EB is rare. One thing to describe its rareness is that a doctor or a nurse can be working a lifetime and never bump into this condition. With modern medical care, some with the worse kinds of EB can live into their thirties. Unfortunately, by this age most will succumb to a particularly aggressive skin cancer (SCC: Squamous Cell Carcinoma) that is somehow touched off by EB. While SCC is notably a very slow moving cancer, on EB patients it is instead a very fast cancer.
There are three basic forms of EB:
~EB simplex is the most superficial type, with splitting of the epidermis within the basal layer.
~Junctional EB has splitting within the lamina lucida, at the junction of the epidermis and dermis.
~Dystrophic EB has a split within the dermis below the lamina densa. Because of the dermal placement of the blister, lesions heal with scarring.
Upon injury, the simplex’s wound is not as deep and severe as the dystrophic’s one, but it is more easily obtained.
The Children with EB are called “Butterfly Children” because in spite of the extreme fragility of their skin (like a butterfly wing), that blisters at the slightest touch, they take on life and light it up with their bravery.
Don’t Be Afraid To Hug Me
Don’t be afraid to hug me.
Don’t be afraid to kiss me.
Don’t be afraid to snuggle with me as we sit and watch TV.
Don’t be afraid to give me “high five”.
Don’t be afraid to tickle me silly.
Don’t be afraid to shake my hand whenever you greet me.
Don’t be afraid to have fun with me.
Party and dance and watch movies.
Don’t be afraid to ask me questions
or be curious about my skin.
Don’t be afraid to get to know the person within.
Don’t be afraid to treat me as any other teen.
Don’t be afraid to spread the truth about my disease.
So you can give me hugs and kisses,
shake my hand as we meet,
party and dance with me,
and tickle my feet.
You can ask me questions
and get to know me
and tell others about my disease.
But there’s just one rule to follow,
And that’s be as gentle as can be
as you give me hugs
full of love and not pity.
Written By Cristina Perez in memory of Jennifer Johnson.
EB patients live a tortured existence of daily pain and, in the more severe forms, such as Recessive Dystrophic, frequent medical procedures, with little hope of recovery or normalcy. Yet we must always remind ourselves that inside the disfigured body lives a child who wants to enjoy all the things in life a normal child enjoys, to play, to laugh, and to learn, a child with all the potential and need for joy of a normal child.
Photos are grouped by form: