EB and JEB-PA?

Epidermolysis Bullosa (EB)
 is a rare genetic skin disease that causes the skin to be so fragile that the slightest friction can cause severe blistering—inside and outside the body. Today there is no cure. Severe forms of EB cause patients to live with constant pain and scarring. The worst forms of EB lead to eventual disfigurement, disability and often early death.There are many patients who are diagnosed with milder forms, which, while they can be extremely difficult to live with, are non-disfiguring and non-lethal.
The only treatment for EB is daily wound care and bandaging. The daily routine is a grueling, multi-faceted daily regimen. Caregivers, often parents or family members of EB children, must work in tandem with medical professionals to determine and administer different treatment methods to care for EB wounds.
With skin as fragile as a butterfly wing, EB patients are dubbed “Butterfly Children”. On the outside physical wounds prevent them from normal daily activities enjoyed by other children. On the inside, their dreams are the same as any child who loves, plays, learns and grows despite the pain and impediment caused by their disease. With the programs and services of Debra of America, EB’s Butterfly Children and their families find the support they so desperately need. Debra of America works to ensure that a life of struggle is also a life of hope for the 1 out of every 50,000 live births in the United States affected by EB.

What is the cause of Junctional EB?

Through research it is now known that mutations in the genes encoding alpha 6, beta 4 integrin, collagen XVII or one of the three chains of Laminin 5 contribute to defects in the formation of hemidesmosomes or anchoring filaments.
Defects within any of those components of the skin allows for the separation of tissue and blister formation whenever there is friction or trauma to an area. In many instances blistering can occur spontaneously.
There are three major sub-types of Junctional EB. Herlitz, non-Herlitz and Junctional EB with associated Pyloric Atresia. Though Junctional EB is considered a non-scarring form of EB, tightening and thinning of the skin does occur. In many instances residual atrophic scarring occurs.

How is Junctional EB Inherited?

JEB is an autosomal recessive condition. This means both parents are healthy carriers. Healthy carriers are non-symptomatic and will never develop the illness. When each parent has a copy of the altered gene, there is a 25% or 1 in 4 chance the child will be affected by Junctional EB. Unfortunately, there is no test to detect carriers for JEB. We are made aware that the parents are carriers after the child is born.

Junctional EB with Pyloric Atresia

Some infants are born with Junctional EB and have been observed to have pyloric atresia, in which the opening between the stomach and the intestines fails to form. Surgery is necessary to repair the anomaly.
Generalized blistering, ulcerations of skin and mucous membranes is usually evident at birth. Blistering may be mild to severe. Erosions on finger and toenails, nail dystrophy or absence of nails may be evident. Erosions and loss of hair (alopecia ) upon the scalp and granulation tissue around mouth and nares may occur. There may be some scarring and thinning of the skin on affected areas (atrophic scarring). Warmer climates can exacerbate blistering.
The infant may suffer complications such as infection, dehydration, electrolyte imbalances, respiratory, gastrointestinal, and/or genitourinary tract involvement. These complications may lead to death.
Electron microscopic evaluation of the structure of the skin of a person affected with JEB-PA reveals skin separation at the level of the lamina lucida, small hemidesmosomal plaques and reduced amount of keratin filaments with hemidesmosomes.
Mutations in JEB-PA are within the genes encoding either alpha 6 or its partner beta 4 integrin. These components of the hemidesmosome are found both in skin and the stomach, explaining the failure of formation of the first part of the intestine (the pylorus).
Since EB varies in severity these manifestations may or may not be experienced by the individual affected.


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