And Then There Were 4...: EB Awareness Week

i know it's been too long since i've posted anything, but i want to do a post about something that has become very important to me. i follow several blogs about children that have a very rare skin disease called epidermylosis bullosa. i have fallen in love with these kiddos and their parents just through these blogs. they are amazingly strong and incredible people. i am going to give a little bit of detail about what EB is, and then at the bottom i will put the links to some of these amazing kids' blogs. i hope you will read this and get educated about this terrible disease.

EB is a rare, genetic skin disease that involves the connective tissues of your skin. Even the slightest bit of friction to the skin can cause severe blistering, both inside and outside of the body. Individuals with EB are usually refered to as "Butterfly Children" because their skin is as fragile as the wings of a butterfly. There is currently no cure for EB, and the only treatment is supportive care such as wound care and bandaging (or in some cases: wound care, bandaging, eyes, trach, feeding tube, etc...) Severe forms of EB often lead to constant pain and scarring; or in some cases death.

In most cases, EB is inherited. Research has found that there are close to 10 genes involved with the skin formation that can be mutated and cause EB. But in addition to EB being inherited, it can also be caused by a spontaneous mutation. There are 3 main types of EB: Simplex, Junctional, and Dystrophic.

EB Simplex is most often dominantly inherited. It involves the uppermost layer of skin (within the epidermis) There is little internal involvement of blisters, except in the mouth- usually at a young age. The blisters usually affect the palms and soles of the hand and feet. And they often develop thickened fingernails shortly after birth.

Junctional EB is always recessively inherited. It involves the layers between the epidermis and dermis- depending on the different types. There are 2 main subtypes of Junctional EB: Herlitz and non-Herlitz.

-Junctional Herlitz is a very severe type of EB. Death usually occurs by the second year of life- do to infection, malnutrition, dehydration, electrolyte imbalance, organ failure due to internal blistering, etc. Blistering may be present at birth, but most times the blisters come gradually and usually affect every part of the body, including the mucous membranes.

-In non-Herlitz Junctional EB, blistering may be mild to severe, and also involve all the parts of the body, including the insides. Death may or may not occur from the same complications listed above.

Dystrophic EB can be inherited either by either a dominant or recessive gene. Blistering can be involved in the subcutaneous layer of skin or between the epidermis and dermis layers. And these blisters most time result in scarring and webbing of the hands and feet. There are two main types of Dystrophic EB: Dominant Dystrophic (DDEB) and Recessive Dystrophic (RDED).

-In Dominant Dystrophic, the blisters are usually limited to the hands, feet, knees, and elbows. However it can involve mucous membrane involvment and abnormal or absent fingernails.

-Recessive Dystrophic EB is typically more severe than DDEB, and in addition to what is listed above, there is also malnutrition, dehydration, webbing and fusing of the fingers and toes, internal organ involvement, esophogeal strictures, etc. The risk of skin cancer is increased for this type of EB and can sometimes result in death.

if you are interested, here are some wonderful children you can go read and pray about:

ok, i guess that's enough education for one post:)

have a wonderful day!