Epidermylosis Bullosa?

[Sunny]

Hello! I am 26 years old and was born with what doctors called Epidermylosa Bullosa, a rare skin disease that is passed on genetically. My older sister was also afflicted, as was my father as a a child. When I was a couple of weeks old, my body broke out in blisters and my mother needed to keep me bandaged at the joints to keep me from rubbing my skin off. Within a year or two, however, the blisters disappeared, but my skin was left with a modeled skin pattern. I have never had any more blistering problems, but have grown up with this discloration that apparently (according to my father) will fade with the sun. The only problem is I hate being in the sun because the discoloration is embarrassing to me. I have been to several dermatologists over my lifetime seeking information on my disorder, but they are usually unfamiliar with it or just offer me Retinol-A or bleaching creams, which don't really work. I also had a biopsy performed on a piece of the darker pigmentation and was told that the discoloration was located in the top layers. The modeling ranges in color from white to tan to darker tan to brown. In certain areas, like my stomach, it blends in more when tan, but on other places, like my arms, the little white spots won't tan and I look like I have opposite freckes. I have also done extensive internet research and have not come up with any pigmentation modeling associated with Epidermylosa Bullosa. I'm not entirely convince that this is the disease that I have (or had). All of the research that I have done turns up cases of webbed hands and feet and lifelong blisters, etc. This is not the case for me or anyone in my family. What I know of my family history is that my father remembers having it as a child, my older sister has it, my younger sister does not have it and my younger brother does. My uncle had it and all three of his kids have it. My aunt had it and none of her two children or 5 grandchildren have it. My other aunt didn't have it and neither did her son. I am desperate to find out with certainty what this is that I have and if there is anything that I can do for the pigmentation. I have tried sunless tanners, which help conceal a little, make up, which is pretty dreadful, tanning booths, which helps fade a bit, but is pretty unsafe, bleaching creams, which don't really help because the colors are too mixed, and Retinol-A, which would take forever (and lots of it) to show a difference on my entire body. Do you have any suggestions? Please, please, please! Would laser surgery be a viable option for me? I am willing to try anything. And are you at all familiar with what I have described above and able to determine if this could possibly be something other than Epidermylosa Bullosa? Thank you so much for your help!

[DB]

You can call Johns Hopkins Hospital in Baltimore.  It's one of the best in the world.  They weren't able to help my son with his problem but maybe they could with yours.  Dr. Anholt's and Dr. Fisher's phone number is 410-955-3345 or 410-955-2942.

[DB]

My son has had Epidermylosis Bullosa Cochran-Webber Syndrome since he was born.  He inherited from his father and grandfather.  We live near Baltimore City where Johns Hopkins Hospital is located which is considered the best hospital in the world.  I took my son there when he was about 2 years old and was told what it was called but there was nothing that could keep him from getting blisters. My son was having so many blisters on his feet last summer that he went there to see if there is anything new that could help his feet not get blisters.  They had him on a test program where he would soak his feet in a liquid mixture.  He did this for about 2 months but it didn't really help.  The doctor in charge of the dept. is Dr. Anholt.  My son's doctor was Dr. Judith Fisher.  I have two phone numbers for them.  410-955-3345 and 410-955-2942.  Maybe they could give you information about your type of problem.  If anyone knows how to keep from getting blisters on your feet other than staying off of them, let me know.

DB

[vwinks]

I was reading a comment posted by a 26 year old who has been diagnosed with epidermylosis bullosa. He stated that he had gotten blisters when he was a few weeks old and that he eventually grew out of the blisters. I have a 6 year old son who was diagnosed with the same disorder when he was six weeks old. He too had blisters and has grown out of them some, but does still get them. My mom had the same thing, my aunt (her sister), my sister, me, my nephew (my sister's son), and my son. Also, we too have the discoloration of pigment. I get can get very tan and I have these small white spots where there is no pigment which almost resembles the white spots on like salami or something. My six year old has red spots from blisters that definitely looks like some sort of scarring. In doing research and reading up on epidermylosis bullosa, I find that we must have a very mild form of this disorder. Does anyone know of different degrees of epidermylosis bullosa? The doctor that diagnosed my child said that he knew of three different forms of the disorder. The first being that a child will be born with the disorder and the skin leathers up within days and the infant dies. The other is the weblike hands and feet from the blisters, and then what my family has - blisters on hands feet, joints, which eventually become less frequent as aging. Let me know of any information anyone can give. Thanks.

[Alan Rockoff, MD]

Sunny:

I am not familiar with Epidermolysis bullosa, a rare disease (or really a number of related diseases.)  As to diagnosis, I recommend that you consult a dermatologist an academic medical center, with an interest in genetic skin disorders.  You might want to be in touch with the dosease's patient support group at http://www.ebmommas.org/, who may be able to point you in the right direction for referrals in your area.

Regardless of whether what you have fits this particular diagnostic category, however, the issue of treatment is not simple.  Laser surgery is indeed possible for pigment disorders in the superficial skin layers, but covering a widespread area such as that you describe is going to be a tall order, and perhaps an impossible one.  Still, there's no need to give up in advance.  Any academic department will have the necessary laser equipment to perform test spots to see whether the treatment is worth pursuing.

Finally, there are many people with various skin changes which cannot be removed medically or camouflaged successfully.  If that's the case, counseling may be in order to help you come to terms with what you can't change.

Good luck.

Dr. Rockoff