Epidermolysis Bullosa Registry

                                          EBCare Registry

                                  ebcare.patientcrossroads.org

                                                    
https://ebcare.patientcrossroads.org/

EBCare Registry

ebcare.patientcrossroads.org

The Epidermolysis Bullosa Registry was originally created in September of 1986 through Rockefeller University in NYC, NY.  The goal was to develop a list of EB patients with various forms of both inherited and acquired forms of EB.  Also, to create a data bank of 1) clinical 2) historical and 3) genetic information pertaining to these patients and to gather donated tissue biopsies, which include selected cells and DNA from selected EB patients to establish a permanent tissue/cell bank, from which researchers can study and to further research of all types and sub types of epidermolysis bullosa.  Below is the link to the clinical trials website that gives the basic information for the original EB registry study, which has since been completed and closed.

http://clinicaltrials.gov/ct2/show/study/NCT0000476

Below are a few excerpts from the EBCare Registry (ebcare.patientcrossroads.org) which is the 'new' EB registry:

 "a single, online database that collects and stores information provided by participants and includes personal and clinical information provided by patients with all forms of epidermolysis bullosa (EB). This information will be kept confidential by EBCare, LLC. The Registry is a research project that collects and stores information, and makes this information available to qualified researchers and others interested in studying the disorder with a view to diagnosing, characterizing, and treating the disease."

"The Registry facilitates research by all qualified investigators who wish to study patient populations that are well characterized by accepted criteria. Once established, a Registry is a research resource that can support many diverse types of investigations, including clinical trials, performed by qualified researchers to help diagnose and treat disease."

"By sharing your information with the EBCare Registry, you are helping create this valuable resource that does not currently exist." - information provided by EBCare Registry

"By enrolling in the Registry, you are in no way committing yourself to participate in any Registry-related research project.  Your personal and confidential information will be  protected in accordance with applicable United States and international privacy and security regulations such as the Health Insurance Portability and Accountability Act of 1996 (HIPAA) and the European Union Data Directive as well as applicable state or national laws."

"Vision

The vision for the Registry is to establish a global resource that will ultimately serve as a repository of information gathered from people affected by all forms of EB."

"Goal

The goal of the Registry is to facilitate communication between affected individuals, clinicians involved in their treatment, members of the health care community, and scientists who strive to advance research on the diagnosis and treatment of all forms of EB."

"Objectives

The objectives of the Registry are to:

1.     Characterize and describe the experiences of individuals affected by all forms of EB.

2.     Identify EB treating physicians.

3.     Assist the development of clinical care guidelines.

4.     Facilitate in the planning of clinical trials.

5.     Facilitate clinical trials by informing the EB community in a timely fashion about new EB clinical trials and research projects."

"By achieving these objectives it is hoped that the Registry will accelerate the development of effective therapies for all forms of EB."

"Who Maintains and Funds the Registry?

EBCare, LLC maintains and coordinates the Registry and is guided by a Board of Managers that provides oversight and includes DEBRA International, DEBRA of America and Lotus Tissue Repair, Inc.  Funding for the Registry is provided by Lotus Tissue Repair, Inc."

"How Can I Participate in the Registry?

The EBCare Registry was launched in February 2012, initially in English. In the future, we plan to develop versions of the Registry in other languages to facilitate more international participation. The Registry is accessed through the Internet and to participate you must register online and complete an easy-to-use questionnaire, which will be accessible to you after you register."

All information in parenthesis was provided from EBCare registry

PLEASE, PLEASE, PLEASE take the time to add your information to the registry.  It is vitally important to have as many patients sign up as possible in order to properly catalog as many cases of EB that they can.  The reason YOUR participation is so important is that this is where the researchers who study EB go to find the information they need to continue to search for a treatment/cure for EB.  It takes about 20-30 minutes to complete and your information is completely private and protected by HIPAA laws.  If you want to help the doctors and researchers who are searching, desperately, for a treatment/cure for EB then please sign up with the EBCare registry.  Without your participation there is no registry and, therefore, less statistical information for the doctors and researchers to pull from when studying this devastating disorder. 

“A corneal abrasion is a scratch on the eye's cornea. The cornea is the clear, protective covering over the iris, which is the colored part of the eye, and the pupil, the black circle in the middle of the eye. It's important both for vision and for protecting the eye. If you poke your eye or if something gets trapped under your eyelid -- such as dirt or sand -- your cornea may become scratched. When it does, it can cause significant pain and discomfort.” - info from WebMD.com

Corneal eye abrasions are an issue for many of those with EB.  A few examples of what can cause a corneal abrasion are; dirt, dust in eye, rubbing the eyelid, dryness, direct heat exposure (such as from opening an oven door or lifting the lid off a steaming pot), scratching, eye lash or hair in the eye.  These things can cause scratches on the cornea or, which is more common with EB, a fluid filled blister on the cornea.   

The questions I posted to others with EB regarding this issue are as follows:

1) How they occur
2) What you do to help them heal
3) What you do to make yourself comfortable while they heal
4) What supplies you use to help them heal
5) How long it can take for the abrasions to heal
6) What you do to entertain or distract yourself while they are healing

 
Below are some helpful tips from other’s with EB (or their parents) for dealing with corneal abrasions if/when they occur.  I have not used names unless given permission to do so.


1)  “I used an OB pad and Mepitac to make an eye patch for him. He is NOT happy, but he hasn't gotten it off yet!!”

2)  “wetting some small pieces of fluff, and tossing them in the freezer; when ready I take one out and press on her eye, when warm I wash it, and put it back in the freezer.”

3)  “warm wash cloths mainly, because it helped better than cold if I couldn't pry my eye open…it was stuck together from oozing all night.”

4)  “I sit in a dark room, put a cold wet tissue on it. It normally lasts a couple of days, can last up to a week.  Keeping it shut can help it heal but as I'm stubborn and don't like asking for help I try to open my eye and keep it open but I think it would heal faster if I kept it shut. I have RDEB.”

5)  Contributed by Samantha Rose Smith, teen with RDEB. (Causes = 1) Typically when the air is dryer, less humid. And just by rubbing your eye when u wake up or during the night.”

“(How to heal = 2) If they don't seem infected I apply lacralube, or aqua fore. And sleep the whole time or stay in a dark room with the eye closed.

“(Stay comfy while healing = 3) Stay on top of pain by not waiting until the pain gets worse and take it (meds) every 4 or 5hrs.”

“(What you use = 4)  Lacralube or aquarfor, if it's swelling and not healed but 5days an antibiotic eye ointment, or if you don't have ointment and it's absolutely necessary, drops but their harder and more painful to use.”

“(How long to heal = 5)  It used to take 3 days average but now that I'm older it only takes 1 1/2 days.  I still get some really bad ones that take 4ish days to heal, during/after that time I still apply loads of ointments to not scratch it, as even though u think it's healed it's not completely healed.”

“(What you do while healing = 6)  I listen to TV or music, if I can open it (my eye) I'll watch TV, or listen to mom reading me homework if I'm more behind.  I cant do anything else because I'm to sleepy and in too much pain. I have rdeb, (other or possibly inversa, I'm not sure but it's been getting kind of worse with age) and I would like to be referenced in case someone needs to know more!”


6)  “If you have to be in the light, sunglasses work wonders the big ones that cover the side of the eye. Also dilation drops help keep the eye open when going out.  That way you don’t have to strain and forcefully hold it open.  There are also numbing drops depending on the pain. Cold cloth helps the swelling and helps eye not to water.”

7)  “I scratch my eyes all the time in the summer. Actually looking into getting tear duct plugs to keep moisture in my eye.”

8)  “Humidifiers help so much in reducing the possibility of getting an eye scratch.”

9)  John N. writing for son Casey “Casey gets frequent eye abrasions.  He is 4years old with rdeb and any thing that touches his eye causes damage.  He has gotten them pillow fighting, rubbing, and walking into doors. He immediately cries and holds both his eyes closed. He is, at this point, incapacitated for 2-3 days.”

“At this point he cries every couple hours we need to keep his eye as moist as possible. We use sustain eye ointment. It doesn't have preservative.  Our ophthalmologist recommended it as the best but refresh or lacralube are equivalent.“

“He lays in his dark room and will listen to music or listens to his favorite movies, or we read to him.  We were given a dilating drop but they burn. It only helps with light sensitivity.”

“This is one of Casey’s most challenging times it is very stressful on us and most of all on him. There isn’t a lot to help with the pain he feels. Narcotics don't work, Tylenol, Motrin do nothing.  He won't put anything like a cool soak on his eye but that helps when I had a scratch.”


10)  “The healing time can vary from same day to 4-5 days, depending on the severity of it. The eyes are one of the quickest healing parts of our bodies fortunately. They occur as a result of dryness and usually happen in the middle of the night. The cornea gets dried out, and at whatever point you open your eye in the night, the top layer of the cornea gets pulled back by your eyelid, causing an erosion. Just like friction on our skin.”

“The best way to get it to heal up is lots of moisture and lots of rest. I use Moisture Eyes PM ointment and Refresh Liquigel.  If it starts getting infected at all, I see my ophthalmologist right away to get some Vigamox (antibiotic drops). I learned to get into see him QUICKLY the hard way. One time I had one turn into a corneal ulcer and was told that I stood a 40% chance of losing my cornea that time. There have also been a couple times where my doctor had to "scrape the fluff" off of it to get an even abrasion so that it would heal properly (with numbing drops of course).”

11)  ”For me, corneal abrasions are just about the worst part of EB. It is PAINFUL and scary. When I get a bad one, I am completely down and out. Couldn't go to work or school or do anything but keep it closed and keep the lights dim. Cold compresses always made mine feel better. I have had a ton of them, but was told that all of my scarring is miraculously around the part that affects my vision, and not covering it, so I have had very little visual loss from it all.”

12)  “I put lacrilube in every night or my eyes blister.  If they still blister then I use viscotears and put mepilex light to keep it closed.  The pain is awful and it feels like you have grit in your eyes for days.  I have rdeb, non hs…I have permanent scars on both eyes…the secret is to never let the eyes dry out and never sleep without ointment in them.  I use viscotears in the day and close my eyes for 1 whole minute an hour-consultant said to!”

13)  “Steps my husband uses for eye abrasions:”
“1) over the counter- multi solution rinse in both eyes.”
“2)over the counter- refresh tears 2 drops in both eyes.”
“3) over the counter- refresh liquid gel 2 drops in both eyes.“
“4) prescribed- Prednisolone Acetate Ophthalmic Suspension 1%, given once or twice daily. It really depends on the Dr. When my husband first saw his eye Dr. she told him to put two drops in both eyes, one time per day. She would check him regularly while taking this med. because she said it can cause pressure in the eyes. When she said his eyes weren’t having new growth and pretty much stable she started to wean him off slowly. He now takes one drop in both of eyes every other day.“
“5) Then the last one he does as to help with the dryness and keep eyes from sticking especially at night-time is a prescribed ointment called Erythromycin Ophthalmic. This one he applies while holding one eye lid at a time. Squeeze along the eyelid on top and on the bottom eyelids. Then another over the counter ointment called Refresh P.M.“
”This process we have followed every morning and at bedtime. He reminded me to mention to at least wait five minutes between every process. Hope this is helpful! I know it seems like a long process but the good news is that so far my husband does not show any changes and from what his Dr. said this is very good.”

14)  “I use warm wash clothes mainly, cuz it helped better than cold if I couldn't pry my eye open like it was stuck together from oozing all night…”

15)  “Eye abrasions are our most painful part of EB. My son is Junctional-nH and has gotten corneal erosion's since he was 6 months old. His first was from a fingernail scratch (we think,) but others have occurred from having dry eyes, the wind, and other types of scratches.“

”His erosion's usually last 10 days, but some have healed in 5 days and others take weeks. When he has an erosion, we give him alternating Tylenol and Motrin for pain. We keep him in a dark room and have the TV, music, or our voices as a distraction.“

”We follow his lead as to what he can or wants to do while he is healing. We put muro ointment in his eyes every 4 hours to keep it lubricated and to help reattach the cornea. If there is any sign of infection we alternate an antibiotic drop with the muro.  We have found that we can prevent most of these erosion's by using the muro ointment nightly.”

16)  “I use Refresh gel drops, then a strip of mepitac to seal the eye. I have too many young ones to get the rest I need, but the gel helps a lot. My eyes will get torn when I'm having an allergic reaction, grit in my eye, and sometimes just rubbing. Never from contacts though, oddly enough.”

Also, there are contacts that can be worn to help reduce the risk of corneal abrasions.  They can be used by most ages, even younger children (I have heard from one set of parents whose child is 2 and uses the contacts.  They said it has helped immensely in reducing corneal abrasions).  There are mixed opinions regarding the contacts.  Some doctors and patients think they are very helpful, while others feel they could possibly be hurtful.  The contacts act as a shield against trauma and/or friction.  I will be following this post with an update regarding the contacts once I hear back from the health professional I had asked for information about them : ) 


Please feel free to offer any tips, info or advice that may not be mentioned here!

Itching is a MAJOR issue for those with any form of EB.  The worse the itching, the worse the trauma to the skin.  Sometimes there will be wounds or blisters underneath healed, calloused skin which makes stopping the itch more difficult.  Often during sleep is when itching can be a real issue as scratching can occur while asleep.  Sleep scratching can cause more damage than scratching while awake as we are unaware we are itching, therefor unable to make the conscious decision to NOT scratch.  Our main sources of heat output are head, feet, hands, under arms and groin area.  Keeping these areas cool will help reduce over all itching.  Here are a few more tips that can help with this problem.

* Please consult a physician for healthy over all body/skin temperature levels when dealing with infants, young children and the elderly *

1)  Cool showers or baths which can be followed by partially drying with the cool setting on a hair dryer or standing in front of a fan.

2)   Cold socks (this can be helpful for those with itchy feet).  Store them in the freezer (regular, soft cotton socks).  Also, you can get thin socks, keep them in the freezer, and apply one pair then (in the second pair) put the ice-less ice cubes (you can find some brands that make them with a soft, pliable plastic coating instead of the hard plastic) in the second pain and then put on over the first pair.  This allows the bottom of the feet to remain cool.  This is only recommended for those that are not yet walking, are unable to walk OR are using them while sitting, resting or sleeping.  You don't want to walk on them as this could cause them to burst.

3)  Inserts for the top of pillows and mattress's that slide into the pillow case or under the bottom sheet.  They help keep the pillow cool, thereby helping the head, neck and shoulder area remain cool and the mattress pad helps keep the entire body cool.  You can find these items online.

4)  Ice packs.  They can be placed under the covers at bed and/or nap time to help keep them cool while sleeping.   Can also be placed in strollers, car seats and motorized chairs.  I recommend the harder plastic ones as they are not susceptible to leakage from accidental punctures.  They are very inexpensive and can be found in camping sections of larger stores or household/kitchen areas of smaller stores

5)  It's a good idea to keep several instant ice packs in the first aid kit that you keep in your car and your home.  If you are out and an itching attack occurs you can pop them and place on the itching until you can get to a cooler area or allow time for any medication you may be taking for itching.  My experience with the instant ice packs is that they generally stay cold for about 10-15 minutes and cool for another 10, depending on how warm or hot the area is where they are placed.  They can stay cold/cool longer if placed on an area that is, itself, not very warm or hot.

6)  There are prescription medications that can be prescribed by your or your child's physician that are supposed to help with itching.  I recommend asking your doctor for more information regarding those medications.

7)  Topical anti itch cream, sprays and gels can also be helpful.  Benedryl brand (generic version is as effective) anti itch cream, spray, gel, hydrocortisone creams, aloe vera gel and aloe vera cooling gel (can be found at most pharmacies or pharmacy areas in your local grocery store).

8)  Lotions and creams:  Alwyn Cream, Cetaphil Lotion, all Eucerin products (Aquafor), Calamine lotion (not sure if calamine stings, I suggest trying a small spot and see the reaction before trying on larger areas).  Aveeno products, Remedy (with Olivamine) skin repair cream (can be purchased through medical supply companies like National Rehab.  Their information can be found in the post prior to this one : ) 

9)  Bath products:  Oatmeal baths (either using regular oatmeal or oatmeal products like Aveeno).

 Please see the original blog post for a few other ideas that are under the heading 'Itching'

I hope these ideas are helpful!  I would love to hear any other suggestions that I may not have mentioned.  By sharing the information we have we can all help each other learn new ways to handle the effects of EB, thereby allowing us to live a happier, less stressful life : )

Epidermolysis Bullosa (EB)

                               
                            
         Epidermolysis Bullosa (EB)

                    


Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder that generally presents at birth with missing and/or blistered skin. Mucous membranes are often affected and can, in some types, also present airway and other internal involvement.  EB affects tissue both internally and externally and presents itself in 1 in 50,000 live births.  This genetic skin disorder does not discriminate between ethnicity or gender. No form of EB is contagious.


This blog is for anyone with any form of Epidermolysis Bullosa as well as family, caretakers, friends of those with EB and all who wish to learn about EB and help spread awareness.  My goal is to offer information about EB, wound care products and other supplies, as well as helpful tips from myself and others with EB.   

There are 4 main types of EB and many subtypes within those main types, each of which are caused by a mutation in different proteins within the genetic structure.  Below are the 4 main types and a few of the more common subtypes.

1) Junctional: Considered the most severe, and rare, of all types of EB.  Below are the main sub types of JEB.
  
   - Non Herlitz 
     - Herlitz
   - With Pyloric Atresia
   - Inversa

2) Dystrophic and Dominant Dystrophic: Considered to be milder forms of EB while Recessive Dystrophic, a sub type of Dystrophic, has many sub types which can be moderate to extremely severe in presentation.  Below are the sub types of Dystrophic along with the sub types of each form of Dystrophic.
   
   - Recessive Dystrophic
       - Hallopeau Siemens
       - Non Hallopeau Siemens
       - Inversa 

    -Dominant Dystrophic
     

3) Simplex: Considered to be the most common form of EB it has many sub types that range from mild to extremely severe.  While EB will never 'go away' some sub types of Simplex can become milder in presentation as the patient grows older.  Below are the most common subtypes of EBS.
    
    - Dowling Meara
    - With Pyloric Atresia
    - Weber Cockayne
    - Koebner's
    - With Muscular Dystrophy

4) Kindler Syndrome: A rare form of EB which is caused by a mutation in the Kindling -1 gene.

There is one form of EB that is not inherited but is an autoimmune disorder.  It is called Epidermolysis Bullosa Aquisita and generally appears later in life. EBA is not contagious.

I hope you find this information helpful and I appreciate any feedback or other information, products or tips that you think should be mentioned or you find helpful.  
I would like to thank everyone who volunteered information.  I greatly appreciate your contribution : )  I have not included names or personal information from contributors in an effort to protect everyone’s privacy.  If you would like recognition for your entry I am happy to do so, just let me know : )  Thanks for being a part of this project and for being such strong and beautiful people!

Some information regarding types/sub types were found at http://www.ebnurse.org