Epidermolysis Bullosa (EB): Butterfly Children

Epidermolysis bullosa (EB) is a genetically based disease (caused by a mutation in the keratin gene) characterized by chronic, painful blistering, which affects 1 out of every 50,000 live births in the United States today. The skin and mucous membranes are so fragile that the slightest touch can cause severe blistering inside and outside the body. Present at birth, EB affects men and women of all races and ethnic groups and sometimes, when there is no family history, it occurs as the result of a spontaneous genetic mutation. Today, there is no cure or treatment for EB, except daily wound care and bandaging. Genetic research is making progress towards treatments and a cure.

There are three main forms of inherited EB: EB Simplex, Junctional EB and Dystrophic EB. These different subtypes are defined by the depth of blister location within the skin layers.

Marinkovich emdicine
Image from DEBRA website, orginally from eMedicine.com, 2008

The skin has two layers; the outer layer is called the epidermis and the inner layer the dermis. In normal individuals, there are “anchors” between the two layers that prevent them from moving independently from one another. In people born with EB, the two skin layers lack the anchors that hold them together, and any action that creates friction between the layers (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores to third-degree burns.  “Butterfly Children” is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly’s wings.  Children with the condition have also been described as “Cotton Wool Babies”. And in South America, “Crystal Skin Children” is the term used.

Current clinical research at the University of Minnesota has included a bone marrow transplant to a 2-year-old child who is one of 2 brothers with EB. The procedure was successful, strongly suggesting that a cure may have been found. A second transplant has also been performed on the child’s older brother, and a third transplant is scheduled for a California baby. The clinical trial will ultimately include transplants to 30 subjects.

Long-shot stem-cell treatment gives two brothers a future (click)

WE REMEMBER:
Eric Lopez, 24, Dies; Fought Rare Disease (click)
October 9, 1994

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DEBRA (click) of America, a nonprofit organization dedicated to supporting research into the disease.
Founded by Eric Lopez and his mother Arlene Pessar, RN.

Eric Lopez had testified before Congress at least six times in the 1980’s, urging Federal appropriations for research as well as legislation that created five clinical centers and a national registry of patients. Last week I had an opportunity to talk with Dr. Glenna Crooks, former Chairman of the National Commission on Rare Diseases, and recipient of the Congressional Exemplary Service Award for Orphan Products Development. I also met with Diane Dorman, NORD’s Vice President for Public Policy. Click here for information about that discussion.

Lilly Pulitzer “A Colorful Cause” Collection (click)
The Epidermolysis Bullosa Medical Research Foundation (click) has partnered with Lilly Pulitzer clothing to commemorate their 50 years with “A Colorful Cause” Collection. The EBMRF is a volunteer, non-profit foundation dedicated to helping medical scientists learn more about epidermolysis bullosa, a group of diseases characterized by blister formation after minor trauma to the skin. Individuals with EB have extremely fragile skin, as any trauma will cause chronic sores, and most individuals affected by the disease have little hope of living past 30 years.

The Lilly Pulitzer Spring ‘09 line will feature clothing designed for adults and children by Brooke Shields, Gwyneth Paltrow, Bridget Moynahan, Catherine Bell, Angie Harmon, Elisabeth Hasselbeck, Marcia Cross and Debra Messing. You can find the collection at Lilly Pulitzer stores and online at http://www.lillypulitzer.com.  A percentage of the sales from these designs will go to the EBMRF and Lilly Pulitzer has also made a generous donation to the organization.

http://www.everlastingbutterfly.com/ (click)
This website is a memorial for Ava Elizabeth Medeiros, who passed away on November 20th, 2004 due to a rare genetic skin disease called Epidermolysis Bullosa (EB). She served as such an inspiration for so many during her short time with us, so we wanted to do something to continue her flight. We hope to spread awareness of this horrible disease, along with helping others who are going through a similar experience.

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~ by marbleroad on June 8, 2009.

One Response to “Epidermolysis Bullosa (EB): Butterfly Children”

  1. quiero relasionarme con niños y niñas como yo yo tengo la epidermolisis bullosa buena

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